ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.614A>C (p.Lys205Thr)

dbSNP: rs1555862962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618853 SCV000740004 uncertain significance Cardiovascular phenotype 2022-08-11 criteria provided, single submitter clinical testing The p.K205T variant (also known as c.614A>C), located in coding exon 8 of the TNNI3 gene, results from an A to C substitution at nucleotide position 614. The lysine at codon 205 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003151796 SCV003840628 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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