ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.534G>T (p.Gln178His)

dbSNP: rs1567788846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689018 SCV000816653 uncertain significance Fanconi anemia complementation group O 2018-04-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 178 of the RAD51C protein (p.Gln178His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. 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. 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: "Benign"; 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.
Ambry Genetics RCV002343446 SCV002641516 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-02 criteria provided, single submitter clinical testing The p.Q178H variant (also known as c.534G>T), located in coding exon 3 of the RAD51C gene, results from a G to T substitution at nucleotide position 534. The glutamine at codon 178 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well 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.

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