ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1604G>A (p.Arg535His) (rs200548021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129790 SCV000184599 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-17 criteria provided, single submitter clinical testing Insufficient or Conflicting Evidence
GeneKor MSA RCV000129790 SCV000822145 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764579 SCV000895670 uncertain significance Nijmegen breakage syndrome-like disorder 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000129790 SCV001217104 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 535 of the RAD50 protein (p.Arg535His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs200548021, ExAC 0.002%). This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 141317). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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