ClinVar Miner

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

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