ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.361C>T (p.Gln121Ter)

gnomAD frequency: 0.00001  dbSNP: rs777913899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003084472 SCV003478509 pathogenic Atrial fibrillation, familial, 18 2022-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln121*) in the MYL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYL4 are known to be pathogenic (PMID: 25807286, 27742809). This variant is present in population databases (rs777913899, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MYL4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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