ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.356A>G (p.Lys119Arg)

dbSNP: rs2047956106
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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 RCV001053719 SCV001217995 uncertain significance Fanconi anemia complementation group O 2019-11-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 119 of the RAD51C protein (p.Lys119Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine.
Ambry Genetics RCV002451223 SCV002613526 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-27 criteria provided, single submitter clinical testing The p.K119R variant (also known as c.356A>G), located in coding exon 2 of the RAD51C gene, results from an A to G substitution at nucleotide position 356. The lysine at codon 119 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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