ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.47G>A (p.Ser16Asn)

dbSNP: rs1555591843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648268 SCV000770082 uncertain significance Fanconi anemia complementation group O 2017-12-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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"). This variant has not been reported in the literature in individuals with RAD51C-related disease. This sequence change replaces serine with asparagine at codon 16 of the RAD51C protein (p.Ser16Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.

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