ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)

dbSNP: rs1555602136
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562622 SCV000663775 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-28 criteria provided, single submitter clinical testing The p.A295G variant (also known as c.884C>G), located in coding exon 6 of the RAD51C gene, results from a C to G substitution at nucleotide position 884. The alanine at codon 295 is replaced by glycine, an amino acid with similar properties. This amino acid position is not 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000687747 SCV000815333 uncertain significance Fanconi anemia complementation group O 2022-11-29 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. 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 not expected to disrupt RAD51C protein function. ClinVar contains an entry for this variant (Variation ID: 480499). 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 alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 295 of the RAD51C protein (p.Ala295Gly).
Color Diagnostics, LLC DBA Color Health RCV000562622 SCV001352886 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459304 SCV004208011 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-05-07 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535799 SCV001749965 not provided Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-13-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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