ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) (rs1555408679)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612144 SCV000712289 uncertain significance not specified 2016-06-24 criteria provided, single submitter clinical testing The p.Ile154Val variant in TPM1 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ile154Val var iant is uncertain.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000627135 SCV000747949 likely pathogenic Primary familial hypertrophic cardiomyopathy 2017-07-20 criteria provided, single submitter clinical testing
Invitae RCV001066540 SCV001231554 uncertain significance Hypertrophic cardiomyopathy 2019-06-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 154 of the TPM1 protein (p.Ile154Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 505158). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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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