ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1294A>T (p.Ile432Leu) (rs587782322)

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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 RCV000131229 SCV000186183 uncertain significance Hereditary cancer-predisposing syndrome 2013-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000131229 SCV000628146 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 432 of the RAD50 protein (p.Ile432Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 142230). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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