ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.220C>A (p.Arg74Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040106 SCV001203662 uncertain significance Hypertrophic cardiomyopathy 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 74 of the TNNI3 protein (p.Arg74Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs375795196, ExAC 0.01%). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 29907873, 15524171). 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: Probably 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.
Color Health, Inc RCV001191247 SCV001358991 uncertain significance Cardiomyopathy 2019-03-15 criteria provided, single submitter clinical testing

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