ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.248A>C (p.Lys83Thr)

dbSNP: rs1333679774
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000576245 SCV000676957 uncertain significance Fanconi anemia complementation group O 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 83 of the RAD51C protein (p.Lys83Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 487199). 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.
PreventionGenetics, part of Exact Sciences RCV000679798 SCV000807168 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000679798 SCV001770034 uncertain significance not provided 2019-10-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002431729 SCV002742242 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-27 criteria provided, single submitter clinical testing The p.K83T variant (also known as c.248A>C), located in coding exon 2 of the RAD51C gene, results from an A to C substitution at nucleotide position 248. The lysine at codon 83 is replaced by threonine, 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.

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