ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.772+17T>A

dbSNP: rs1596386853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004910 SCV001164412 uncertain significance Hypertrophic cardiomyopathy 3 2018-12-03 criteria provided, single submitter research The heterozygous p.Ser227Arg variant in TPM1 was identified by our study in one individual with familial hypertrophic cardiomyopathy. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ser227Arg variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4 (Richards 2015).

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