ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.-13C>A

gnomAD frequency: 0.00001  dbSNP: rs1257687404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176839 SCV001340901 uncertain significance Cardiomyopathy 2023-10-13 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -13 position in the 5' untranslated region in the TPM1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TPM1-related disorders in the literature. This variant has been identified in 1/31384 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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.
All of Us Research Program, National Institutes of Health RCV004006329 SCV004837752 uncertain significance Hypertrophic cardiomyopathy 2023-11-02 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -13 position in the 5' untranslated region in the TPM1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TPM1-related disorders in the literature. This variant has been identified in 1/31384 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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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