ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.838G>A (p.Val280Met)

dbSNP: rs2140239343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566904 SCV001790493 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003771729 SCV004594173 uncertain significance Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2023-04-25 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1201522). This variant has not been reported in the literature in individuals affected with SIX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 280 of the SIX1 protein (p.Val280Met).

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