ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.472C>T (p.His158Tyr)

dbSNP: rs1060501980
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464289 SCV000548094 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-17 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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 disruptive, but these predictions have not been confirmed by published functional studies. 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. This sequence change replaces histidine with tyrosine at codon 158 of the RAD50 protein (p.His158Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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