ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.20_26dup (p.Met10fs)

dbSNP: rs2031422919
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183424 SCV001349143 uncertain significance Cardiomyopathy 2020-01-21 criteria provided, single submitter clinical testing This variant duplicates 7 nucleotides in exon 1 of the TPM1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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). Disease-causing variants in TPM1 are mostly missense variants that act in a dominant-negative manner. The role of TPM1 truncation variants in cardiomyopathy is not clearly established. 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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