ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly) (rs777177571)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698206 SCV000826856 uncertain significance Hypertrophic cardiomyopathy 2018-03-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 116 of the TNNI3 protein (p.Ala116Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs777177571, ExAC 0.006%). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 21846512). Experimental studies have shown that this missense change decreases protein stability and causes a mild reduction in the affinity of TNNI3 towards TNNT2 (PMID: 25685665). 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.
Color Health, Inc RCV001187428 SCV001354243 uncertain significance Cardiomyopathy 2020-04-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333391 SCV001525952 uncertain significance Familial hypertrophic cardiomyopathy 7 2018-07-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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