ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.-3A>G

gnomAD frequency: 0.00001  dbSNP: rs752977897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721362 SCV000531081 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380561 SCV004096972 uncertain significance Cardiovascular phenotype 2023-06-22 criteria provided, single submitter clinical testing The c.-3A>G variant is located in the 5' untranslated region (5’ UTR) of the TNNT2 gene. This variant results from an A to G substitution 3 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004000502 SCV004824743 uncertain significance Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the TNNT2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with hypertrophic cardiomyopathy (PMID: 28840316, 33495597). This variant has been identified in 8/282816 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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