ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.872A>T (p.Asp291Val)

dbSNP: rs1555602124
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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 RCV001978325 SCV002271384 uncertain significance Fanconi anemia complementation group O 2023-09-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1489501). 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 aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 291 of the RAD51C protein (p.Asp291Val).
Ambry Genetics RCV002370666 SCV002685280 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-30 criteria provided, single submitter clinical testing The p.D291V variant (also known as c.872A>T), located in coding exon 6 of the RAD51C gene, results from an A to T substitution at nucleotide position 872. The aspartic acid at codon 291 is replaced by valine, an amino acid with highly dissimilar properties. This variant was identified in 0/3447 cases of invasive epithelial ovarian cancer and in 1/4812 unaffected controls (Song H et al. J Clin Oncol, 2015 Sep;33:2901-7). 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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