ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys) (rs730881090)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159261 SCV000209207 likely pathogenic not provided 2017-06-23 criteria provided, single submitter clinical testing The Asn194Lys variant in the TNNI3 gene has not been reported previously as pathogenic or as a benign polymorphism, to our knowledge. Asn194Lys results in a semi-conservative amino acid substitution of a neutral, polar Asparagine residue with a positively charged Lysine residue at a position that is conserved across species throughout evolution. In silico analysis predicts this change to be damaging to the structure/function of the protein and likely pathogenic. In addition, variants at surrounding residues (Arg192His, Arg192Cys, Ile195Met) have been reported in association with cardiomyopathy, further supporting the functional importance of this region of the protein. Furthermore, Asn194Lys was not detected in multiple control alleles of Caucasian ethnic backgrounds tested at GeneDx, indicating it is not a common benign polymorphism in this population. Based on currently available evidence, N194K is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded

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