ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.597del (p.Ser199fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002844036 SCV003220945 uncertain significance Hypertrophic cardiomyopathy 2023-08-27 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 2016713). This frameshift has been observed in individual(s) with hypertrophic cardiomyopathy (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the TNNI3 gene (p.Ser199Argfs*22). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 12 amino acid(s) of the TNNI3 protein and extend the protein by 9 additional amino acid residues.

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