ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.537C>A (p.His179Gln) (rs372385738)

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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 RCV000130100 SCV000184930 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000462239 SCV000550181 uncertain significance Fanconi anemia, complementation group O 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 179 of the RAD51C protein (p.His179Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 141532). 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: "Deleterious"; 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.
Counsyl RCV000662674 SCV000785380 uncertain significance Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2017-07-21 criteria provided, single submitter clinical testing
Color RCV000130100 SCV001343002 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-01 criteria provided, single submitter clinical testing

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