ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.210G>T (p.Glu70Asp)

dbSNP: rs868718115
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234293 SCV001406931 uncertain significance Atrial fibrillation, familial, 18 2022-04-11 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 960717). This variant has not been reported in the literature in individuals affected with MYL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 70 of the MYL4 protein (p.Glu70Asp).

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