ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.281T>G (p.Ile94Arg) (rs768127412)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199400 SCV000254894 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with arginine at codon 94 of the RAD50 protein (p.Ile94Arg). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and arginine. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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