ClinVar Miner

Submissions for variant NM_003068.5(SNAI2):c.230C>G (p.Ser77Cys)

dbSNP: rs372039867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755389 SCV002005570 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30936914)
Labcorp Genetics (formerly Invitae), Labcorp RCV001755389 SCV002944642 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1315727). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This missense change has been observed in individual(s) with Waardenburg syndrome (PMID: 30936914). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 77 of the SNAI2 protein (p.Ser77Cys). This variant is present in population databases (rs372039867, gnomAD 0.2%).

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