ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.972G>T (p.Gln324His) (rs762625437)

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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 RCV000164538 SCV000215193 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000541573 SCV000651797 uncertain significance Breast-ovarian cancer, familial 4 2018-11-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 324 of the RAD51D protein (p.Gln324His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs762625437, ExAC 0.001%). This variant has been reported in an individual affected with breast cancer (PMID: 26976419). ClinVar contains an entry for this variant (Variation ID: 185169). 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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