ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.248G>T (p.Arg83Leu)

dbSNP: rs760514647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315082 SCV001505638 uncertain significance Atrial fibrillation, familial, 18 2020-07-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 83 of the MYL4 protein (p.Arg83Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYL4-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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