|(C;C)||0||common in clinvar|
One 2006 publication concludes based on patient and functional data that this variant is a splice mutation, which when combined with another RAPSN mutation, can lead to the recessively inherited condition known as congenital myasthenic syndrome.[PMID 16931511] This information is reflected in ClinVar, which lists this variant as pathogenic (albeit in an unreviewed status).
The variant appears to be too common to be causative though. In ExAC, it was counted 13149 times out of 115732 alleles, leading to a MAF of 0.11, and other databases generally agree with a MAF of up to 0.15.
If you are aware of additional evidence concerning the potential pathogenicity of this variant, please let us know.
23andMe refers to a SNP at this position as i5001397, however, they indicate it assays an A and a C (as represented on the plus strand). Since neither A nor C is the major allele, which would be a G as represented on the plus strand, it's unclear if this is a technical and/or database error of some sort.
|Disease||not specified Congenital Myasthenic Syndrome Pena-Shokeir syndrome type I Myasthenic syndrome|
|CLNDBN||not specified Congenital Myasthenic Syndrome, Recessive Pena-Shokeir syndrome type I Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000246555.2, RCV000338570.1, RCV000371752.1, RCV000008519.4,|