ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser)

dbSNP: rs371384395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182606 SCV001348118 uncertain significance Cardiomyopathy 2019-01-09 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is located in the tropomyosin binding domain 2 of the TNNT2 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.
Fulgent Genetics, Fulgent Genetics RCV002483993 SCV002794294 uncertain significance Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449598 SCV004180526 uncertain significance Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449599 SCV004180527 uncertain significance Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449597 SCV004180528 uncertain significance Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing

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