Submissions for variant NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)

gnomAD frequency: 0.00003  dbSNP: rs747377284

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000767097	SCV000621071	likely benign	not provided	2020-12-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30914325)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000519667	SCV000712036	uncertain significance	not specified	2016-05-21	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Ala44Gly vari ant in SOX10 has not been previously reported in individuals with hearing loss o r Waardenburg syndrome. This variant has been identified in 0.2% (9/5424) of Eas t Asian chromosomes by the Exome Aggregation Consortium (http://exac.broadinstit ute.org; dbSNP rs747377284). Computational prediction tools and conservation ana lysis suggest that the p.Ala44Gly variant may not impact the protein, though thi s information is not predictive enough to rule out pathogenicity. In summary, wh ile the clinical significance of the p.Ala44Gly variant in SOX10 is uncertain, t hese data suggest that it is more likely to be benign.
Invitae	RCV000767097	SCV001031641	likely benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149119	SCV001310052	benign	Waardenburg syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001149120	SCV001310053	benign	PCWH syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences	RCV003962452	SCV004782637	likely benign	SOX10-related condition	2023-07-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).