ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.353T>C (p.Ile118Thr) (rs200472836)

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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 RCV000130904 SCV000185813 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000130904 SCV000547999 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 118 of the RAD50 protein (p.Ile118Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs200472836, ExAC 0.2%). This variant has been reported in an individual with personal and/or family history of breast cancer (PMID: 27783279). ClinVar contains an entry for this variant (Variation ID: 142082). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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