ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.353C>G (p.Pro118Arg)

gnomAD frequency: 0.00013  dbSNP: rs537576399
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321680 SCV001512521 uncertain significance Atrial fibrillation, familial, 18 2022-10-03 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: 1021850). This variant has not been reported in the literature in individuals affected with MYL4-related conditions. This variant is present in population databases (rs537576399, gnomAD 0.1%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 118 of the MYL4 protein (p.Pro118Arg).

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