ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.128G>A (p.Ser43Asn)

gnomAD frequency: 0.00005  dbSNP: rs146860407
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056873 SCV001221338 uncertain significance Atrial fibrillation, familial, 18 2023-03-19 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 852295). This variant has not been reported in the literature in individuals affected with MYL4-related conditions. This variant is present in population databases (rs146860407, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 43 of the MYL4 protein (p.Ser43Asn).

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