ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro) (rs200720341)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253227 SCV000320623 uncertain significance Cardiovascular phenotype 2015-12-04 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV001051959 SCV001216144 uncertain significance Hypertrophic cardiomyopathy 2019-03-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 48 of the TNNI3 protein (p.Gln48Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs200720341, ExAC 0.04%). This variant has not been reported in the literature in individuals with TNNI3-related conditions. ClinVar contains an entry for this variant (Variation ID: 264596). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656735 SCV000778807 uncertain significance Dilated cardiomyopathy 2A 2018-06-06 no assertion criteria provided clinical testing The observed variant c.143A>C (p.Gln48Pro) is not reported in 1000 Genomes and its minor allele frequency in ExAC databases is 0.0001253. The in silico prediction of the variant is disease causing by MutationTaster2, Tolerated by SIFT and possibly damaging by PolyPhen2.

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