ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.601A>G (p.Met201Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005287557 SCV005954033 uncertain significance Cardiovascular phenotype 2024-12-12 criteria provided, single submitter clinical testing The p.M201V variant (also known as c.601A>G), located in coding exon 8 of the TNNI3 gene, results from an A to G substitution at nucleotide position 601. The methionine at codon 201 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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