ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.491T>C (p.Leu164Pro) (rs769287847)

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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 RCV000164708 SCV000215376 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000164708 SCV000686462 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-12 criteria provided, single submitter clinical testing
Invitae RCV000548631 SCV000651752 uncertain significance Breast-ovarian cancer, familial 4 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 164 of the RAD51D protein (p.Leu164Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs769287847, ExAC 0.002%). This variant has been reported in two individuals affected with ovarian or breast cancer (PMID: 26261251, 26976419). ClinVar contains an entry for this variant (Variation ID: 185310). 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.

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