ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3776A>G (p.Gln1259Arg)

dbSNP: rs1561661762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690360 SCV000818042 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-30 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD50-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 1259 of the RAD50 protein (p.Gln1259Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine.
Baylor Genetics RCV003459682 SCV004207402 uncertain significance Nijmegen breakage syndrome-like disorder 2023-05-14 criteria provided, single submitter clinical testing

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