ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.851+6C>A

dbSNP: rs375043184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718882 SCV000514950 likely benign not provided 2020-04-30 criteria provided, single submitter clinical testing
Invitae RCV000469101 SCV000547688 uncertain significance Hypertrophic cardiomyopathy 2024-01-23 criteria provided, single submitter clinical testing This sequence change falls in intron 9 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 (rs375043184, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 378750). 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 RCV001179311 SCV001343942 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing

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