ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.843C>A (p.Asp281Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005219377 SCV005855706 uncertain significance Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2024-09-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 281 of the SIX1 protein (p.Asp281Glu). This variant is present in population databases (rs577150755, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SIX1-related conditions. 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 tolerated. 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.

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