ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Centre, Carl Von Ossietzky University Oldenburg RCV003445440 SCV004174185 likely pathogenic Waardenburg syndrome type 4C 2023-05-02 no assertion criteria provided clinical testing The variant SOX10:c.512A>C, p.(Tyr171Ser), which is located in the coding exon 3 of the SOX10 gene, results from an adenine-to-cytosine substitution at nucleotide position 512. The tyrosine at protein position 171 is replaced by serine. SOX10 codes for the SRY-box transcription factor 10, and both loss-of-function variants and missense variants, particularly in the DNA-binding HMG-box, have been suggested to cause the associated syndromes. In silico analyses have assessed this alteration as severe (REVEL = 0.949). This variant can be classified as very rare in the overall population (no carriers in gnomAD). The variant is classified as Likely pathogenic.

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