ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.497C>A (p.Ser166Tyr)

dbSNP: rs727504242
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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 RCV004525335 SCV005034611 uncertain significance Cardiovascular phenotype 2024-02-09 criteria provided, single submitter clinical testing The p.S166Y variant (also known as c.497C>A), located in coding exon 7 of the TNNI3 gene, results from a C to A substitution at nucleotide position 497. The serine at codon 166 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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