ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1120G>A (p.Glu374Lys)

dbSNP: rs1598540478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792577 SCV000931882 uncertain significance Fanconi anemia complementation group O 2023-08-10 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 639707). 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 glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 374 of the RAD51C protein (p.Glu374Lys).
Ambry Genetics RCV002440627 SCV002748742 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-18 criteria provided, single submitter clinical testing The p.E374K variant (also known as c.1120G>A), located in coding exon 9 of the RAD51C gene, results from a G to A substitution at nucleotide position 1120. The glutamic acid at codon 374 is replaced by lysine, an amino acid with 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.
GeneDx RCV003232095 SCV003929854 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 14704354)

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