ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1736G>C (p.Arg579Thr)

dbSNP: rs1557935355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002077 SCV002217162 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Not Available"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with COL11A1-related conditions. This sequence change replaces arginine with threonine at codon 579 of the COL11A1 protein (p.Arg579Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. 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.

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