ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.564-5A>G

gnomAD frequency: 0.00002  dbSNP: rs550286836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875152 SCV001017438 likely benign Hypertrophic cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181732 SCV001346934 likely benign Cardiomyopathy 2019-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346023 SCV002652021 uncertain significance Cardiovascular phenotype 2019-03-18 criteria provided, single submitter clinical testing The c.564-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 6 in the TPM1 gene. This alteration was reported in one individual with dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes (Pugh TJ et al. Genet. Med., 2014 Aug;16:601-8). This nucleotide position is not well conserved in available vertebrate species. The BDGP and ESEfinder in silico splicing models do not produce reliable predictions for the nearby native splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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