ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1414G>A (p.Gly472Arg)

dbSNP: rs1705052598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044395 SCV001208191 uncertain significance BAP1-related tumor predisposition syndrome 2019-12-18 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BAP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 472 of the BAP1 protein (p.Gly472Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
Baylor Genetics RCV001044395 SCV004214906 uncertain significance BAP1-related tumor predisposition syndrome 2023-05-10 criteria provided, single submitter clinical testing
GeneDx RCV004768807 SCV005377293 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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