ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.481G>C (p.Glu161Gln)

gnomAD frequency: 0.00002  dbSNP: rs768903850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580091 SCV000686356 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000686066 SCV000813569 uncertain significance Fanconi anemia complementation group O 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 161 of the RAD51C protein (p.Glu161Gln). This variant is present in population databases (rs768903850, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 490128). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAD51C protein function with a positive predictive value of 80%. 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.
Sema4, Sema4 RCV000580091 SCV002531819 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter curation
Ambry Genetics RCV000580091 SCV002635046 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-12 criteria provided, single submitter clinical testing The p.E161Q variant (also known as c.481G>C), located in coding exon 3 of the RAD51C gene, results from a G to C substitution at nucleotide position 481. The glutamic acid at codon 161 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003235301 SCV003932927 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on 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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