ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.124A>G (p.Lys42Glu)

dbSNP: rs2091788355
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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 RCV001296032 SCV001484987 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2020-03-22 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD51D-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 42 of the RAD51D protein (p.Lys42Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.
Ambry Genetics RCV002402823 SCV002670563 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-27 criteria provided, single submitter clinical testing The p.K42E variant (also known as c.124A>G), located in coding exon 2 of the RAD51D gene, results from an A to G substitution at nucleotide position 124. The lysine at codon 42 is replaced by glutamic acid, an amino acid with similar properties. 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.
Baylor Genetics RCV001296032 SCV005054046 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-11-10 criteria provided, single submitter clinical testing

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