ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.352C>T (p.Pro118Ser)

gnomAD frequency: 0.00001  dbSNP: rs202080282
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042618 SCV001206314 uncertain significance Atrial fibrillation, familial, 18 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 118 of the MYL4 protein (p.Pro118Ser). This variant is present in population databases (rs202080282, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MYL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 840583). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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