ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1099A>C (p.Lys367Gln)

dbSNP: rs1598540332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017284 SCV001178342 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-28 criteria provided, single submitter clinical testing The p.K367Q variant (also known as c.1099A>C), located in coding exon 9 of the RAD51C gene, results from an A to C substitution at nucleotide position 1099. The lysine at codon 367 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001017284 SCV001355543 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873288 SCV002251419 uncertain significance Fanconi anemia complementation group O 2021-10-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 822162). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, a(n) basic and polar amino acid, with glutamine, a(n) neutral and polar amino acid, at codon 367 of the RAD51C protein (p.Lys367Gln).

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