ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.251C>T (p.Ala84Val)

dbSNP: rs2064843483
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365420 SCV001561692 uncertain significance Atrial fibrillation, familial, 18 2022-03-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 84 of the MYL4 protein (p.Ala84Val). This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1056567). This variant has not been reported in the literature in individuals affected with MYL4-related conditions.

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