ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.710C>G (p.Thr237Ser)

dbSNP: rs2140974070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379127 SCV001576868 pathogenic Hypertrophic cardiomyopathy 2024-06-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 237 of the TPM1 protein (p.Thr237Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 36739943; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1067773). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects TPM1 function (PMID: 36739943). For these reasons, this variant has been classified as Pathogenic.

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