ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) (rs876659188)

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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 RCV000214496 SCV000275353 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000409976 SCV000490085 uncertain significance Fanconi anemia, complementation group O 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000411579 SCV000490086 uncertain significance Breast-ovarian cancer, familial 3 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000709511 SCV000839335 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000409976 SCV001393354 uncertain significance Fanconi anemia, complementation group O 2019-06-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 242 of the RAD51C protein (p.Asp242Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a personal and/or family history of hereditary breast and/or ovarian cancer (PMID: 23704328). ClinVar contains an entry for this variant (Variation ID: 231486). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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