ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) (rs121917761)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817897 SCV000958482 uncertain significance Hypertrophic cardiomyopathy 2019-10-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 171 of the TNNI3 protein (p.Ala171Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with restrictive cardiomyopathy or hypertrophic cardiomyopathy (PMID: 12531876, 27532257, 30384889). ClinVar contains an entry for this variant (Variation ID: 12429). Experimental studies have shown that this missense change exhibits increased calcium sensitivity and slower myocyte relaxation (PMID: 18423659, 15961398, 16288990). 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.
OMIM RCV000013242 SCV000033489 pathogenic Familial restrictive cardiomyopathy 1 2003-01-01 no assertion criteria provided literature only

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