Have questions? Visit https://www.reddit.com/r/SNPedia

rs61755320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of a mutation for spastic paraplegia, type 7
(T;T) 7 Spastic paraplegia, type 7; however, possibly reduced penetrance
ReferenceGRCh38 38.1/142
Chromosome16
Position89546737
GeneSPG7
is asnp
is mentioned by
dbSNPrs61755320
dbSNP (old)rs61755320
ClinGenrs61755320
ebirs61755320
HLIrs61755320
Exacrs61755320
Gnomadrs61755320
Varsomers61755320
Maprs61755320
PheGenIrs61755320
Biobankrs61755320
1000 genomesrs61755320
hgdprs61755320
ensemblrs61755320
gopubmedrs61755320
geneviewrs61755320
scholarrs61755320
googlers61755320
pharmgkbrs61755320
gwascentralrs61755320
openSNPrs61755320
23andMers61755320
23andMe allrs61755320
SNP Nexus

SNPshotrs61755320
SNPdbers61755320
MSV3drs61755320
GWAS Ctlgrs61755320
Max Magnitude7

rs61755320, also known as c.1529C>T, p.Ala510Val and A510V, represents a variant in the SPG7 gene on chromosome 16.

The minor allele, rs61755320(T), appears to be associated with autosomal recessive spastic paraplegia, type 7, a disease known "to have a variable, but generally adult, age of onset". An extensive discussion of whether this variant is pathogenic can be found in [PMID 27181684OA-icon.png]; the consensus amongst nine labs seems to be that this mutation, which has a higher frequency than similar mutations, may be of reduced penetrance and may represent an allele that is more likely to be pathogenic when paired with a more deleterious allele than when homozygous (on it's own).

ClinVar
Risk Rs61755320(T;T)
Alt Rs61755320(T;T)
Reference Rs61755320(C;C)
Significance Other
Disease Spastic paraplegia 7 not provided Spastic Paraplegia
Variation info
Gene RPL13 SPG7
CLNDBN Spastic paraplegia 7 not provided Spastic Paraplegia, Recessive
Reversed 0
HGVS NC_000016.9:g.89613145C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000034858.12, RCV000195683.3, RCV000198007.1, RCV000270813.1,



GET Evidence
SPG7-A510V
aa_change Ala510Val
aa_change_short A510V
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.00362521
summary Reported by several contributors to ClinVar as causing spastic paraplegia in a recessive manner. The variant is very common, and for homozygous individuals it's possible that penetrance is low and/or the disease is mild and undiagnosed.