ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.680T>C (p.Met227Thr) (rs773485482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563803 SCV000663844 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000539452 SCV000895090 uncertain significance Breast-ovarian cancer, familial 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000539452 SCV000651771 uncertain significance Breast-ovarian cancer, familial 4 2018-09-25 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 227 of the RAD51D protein (p.Met227Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 472619). 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.
PreventionGenetics RCV000679539 SCV000806583 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing

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