ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.444G>C (p.Leu148=)

gnomAD frequency: 0.00001  dbSNP: rs376518788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036331 SCV000059983 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Leu148Leu in exon 04 of TPM1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). Leu148Leu in exon 04 of TPM1 (allele frequen cy = 1/7020) **
GeneDx RCV000828390 SCV000970076 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001185544 SCV001351790 likely benign Cardiomyopathy 2019-11-12 criteria provided, single submitter clinical testing
Invitae RCV001422858 SCV001625417 likely benign Hypertrophic cardiomyopathy 2023-09-08 criteria provided, single submitter clinical testing

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