ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.601G>A (p.Ala201Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002734882 SCV003000143 benign not provided 2023-07-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002734882 SCV004225614 uncertain significance not provided 2021-11-22 criteria provided, single submitter clinical testing PM2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690317 SCV005185549 uncertain significance not specified 2024-05-06 criteria provided, single submitter clinical testing Variant summary: SOX10 c.601G>A (p.Ala201Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.4e-05 in 1612016 control chromosomes. c.601G>A has been reported in the literature in at least one individual affected with hypogonadotropic hypogonadism and authors classified this variant as likely benign (Kallman syndrome) (e.g. Federici_2022). This report does not provide unequivocal conclusions about association of the variant with Waardenburg Syndrome Type 2E. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 36531499). ClinVar contains an entry for this variant (Variation ID: 1961580). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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