ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.826C>A (p.His276Asn)

dbSNP: rs1567799906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702014 SCV000830841 uncertain significance Fanconi anemia complementation group O 2023-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 578877). 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. 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 histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 276 of the RAD51C protein (p.His276Asn).
Ambry Genetics RCV002424691 SCV002681909 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-05 criteria provided, single submitter clinical testing The p.H276N variant (also known as c.826C>A), located in coding exon 5 of the RAD51C gene, results from a C to A substitution at nucleotide position 826. The histidine at codon 276 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003465621 SCV004207970 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-08-05 criteria provided, single submitter clinical testing

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