ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.609+3G>A

gnomAD frequency: 0.00003  dbSNP: rs997358710
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690323 SCV000818005 uncertain significance Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-09-25 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the TNNT2 gene. It does not directly change the encoded amino acid sequence of the TNNT2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TNNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 569640). 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 may create or strengthen a splice site. 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 RCV001190453 SCV001357949 uncertain significance Cardiomyopathy 2024-07-12 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +3 position of intron 12 of the TNNT2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TNNT2-related disorders in the literature. This variant has been identified in 1/31382 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.
Genome-Nilou Lab RCV003446353 SCV004173762 uncertain significance Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446354 SCV004173763 uncertain significance Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446352 SCV004173766 uncertain significance Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001190453 SCV004831195 uncertain significance Cardiomyopathy 2024-07-20 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +3 position of intron 12 of the TNNT2 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TNNT2-related disorders in the literature. This variant has been identified in 1/31382 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.
Breakthrough Genomics, Breakthrough Genomics RCV004691278 SCV005187156 uncertain significance not provided criteria provided, single submitter not provided

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