Submissions for variant NM_005732.4(RAD50):c.281T>C (p.Ile94Thr) (rs768127412)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164812	SCV000215494	uncertain significance	Hereditary cancer-predisposing syndrome	2017-11-06	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae	RCV000164812	SCV000628226	uncertain significance	Hereditary cancer-predisposing syndrome	2018-11-29	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with threonine at codon 94 of the RAD50 protein (p.Ile94Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs768127412, ExAC 0.02%). This variant has not been reported in the literature in individuals with RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 185400). 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 and their clinical significance is uncertain. 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.
GeneKor MSA	RCV000164812	SCV000822152	uncertain significance	Hereditary cancer-predisposing syndrome	2018-08-01	criteria provided, single submitter	clinical testing

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