ClinVar Miner

Submissions for variant NM_006757.4(TNNT3):c.328C>T (p.Arg110Cys)

gnomAD frequency: 0.00009  dbSNP: rs144957238
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504256 SCV000597512 likely benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000024569 SCV002274335 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 31873). This variant has not been reported in the literature in individuals affected with TNNT3-related conditions. This variant is present in population databases (rs144957238, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 110 of the TNNT3 protein (p.Arg110Cys).
Leiden Muscular Dystrophy (TNNT3) RCV000024569 SCV000045873 not provided not provided 2012-03-18 no assertion provided curation

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