ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.556A>T (p.Ile186Phe) (rs777863000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165455 SCV000216185 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000165455 SCV000260110 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 186 of the RAD50 protein (p.Ile186Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs777863000, <0.01%) but has not been reported in the literature. ClinVar contains an entry for this variant (RCV000165455). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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