ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1006C>T (p.Arg336Trp)

gnomAD frequency: 0.00006  dbSNP: rs371272700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000308292 SCV000339372 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Invitae RCV000308292 SCV002251486 uncertain significance not provided 2021-12-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 286087). This variant has not been reported in the literature in individuals affected with MYH14-related conditions. This variant is present in population databases (rs371272700, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 328 of the MYH14 protein (p.Arg328Trp).

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