ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.716G>A (p.Arg239Gln) (rs780921112)

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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 RCV000215330 SCV000273249 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000215330 SCV000691357 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-25 criteria provided, single submitter clinical testing
Counsyl RCV000540949 SCV000786408 uncertain significance Breast-ovarian cancer, familial 4 2018-04-26 criteria provided, single submitter clinical testing
Invitae RCV000540949 SCV000651774 uncertain significance Breast-ovarian cancer, familial 4 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 239 of the RAD51D protein (p.Arg239Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780921112, ExAC 0.002%). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 229883). 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.
Mendelics RCV000709436 SCV000839178 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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