ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.167T>C (p.Phe56Ser)

gnomAD frequency: 0.00147  dbSNP: rs144870368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549339 SCV000656672 likely benign Atrial fibrillation, familial, 18 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001755908 SCV002005488 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a likely benign variant but additional evidence is not available (ClinVar Variant ID# 476199; Landrum et al., 2016)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000549339 SCV003920245 uncertain significance Atrial fibrillation, familial, 18 2021-03-30 criteria provided, single submitter clinical testing MYL4 NM_001002841.1 exon 4 p.Phe56Ser (c.167T>C): This variant has not been reported in the literature and is present in 0.5% (131/24972) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/17-45297273-T-C). This variant is present in ClinVar (Variation ID:476199). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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