ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.773-3T>C

gnomAD frequency: 0.00004  dbSNP: rs113759732
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796064 SCV000935557 uncertain significance Hypertrophic cardiomyopathy 2022-09-05 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the TPM1 gene. It does not directly change the encoded amino acid sequence of the TPM1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 30297972). ClinVar contains an entry for this variant (Variation ID: 642576). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV001182135 SCV001347489 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing
GeneDx RCV002225732 SCV002504619 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002397590 SCV002669333 uncertain significance Cardiovascular phenotype 2024-03-04 criteria provided, single submitter clinical testing The c.773-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 9 in the TPM1 gene. This variant has been detected in an individual from a hypertrophic cardiomyopathy cohort (Ho CY et al. Circulation, 2018 Oct;138:1387-1398). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV000796064 SCV004822141 likely benign Hypertrophic cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing

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