ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.685G>A (p.Gly229Arg)

dbSNP: rs2147551926
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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 RCV001865185 SCV002129354 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with osteogenesis imperfecta (Invitae). 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 C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 229 of the PLS3 protein (p.Gly229Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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