ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.319G>C (p.Ala107Pro)

dbSNP: rs2542721670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003110066 SCV003761966 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Color Diagnostics, LLC DBA Color Health RCV003533808 SCV004360786 uncertain significance Cardiomyopathy 2024-03-07 criteria provided, single submitter clinical testing This missense variant replaces alanine with proline at codon 107 of the TPM1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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