ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.433C>T (p.Arg145Cys) (rs755173206)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222424 SCV000275939 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000222424 SCV000691339 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-19 criteria provided, single submitter clinical testing
Counsyl RCV000463564 SCV000786023 uncertain significance Breast-ovarian cancer, familial 4 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV000463564 SCV000551363 uncertain significance Breast-ovarian cancer, familial 4 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 145 of the RAD51D protein (p.Arg145Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs755173206, ExAC 0.02%). This variant has been observed in an individual affected with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 231938). 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 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760063 SCV000889822 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing

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