ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile)

gnomAD frequency: 0.00001  dbSNP: rs1160208500
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547645 SCV000650000 uncertain significance Fanconi anemia complementation group O 2023-07-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.03%). 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 471431). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 351 of the RAD51C protein (p.Val351Ile).
Ambry Genetics RCV000562130 SCV000674677 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-30 criteria provided, single submitter clinical testing The p.V351I variant (also known as c.1051G>A), located in coding exon 9 of the RAD51C gene, results from a G to A substitution at nucleotide position 1051. The valine at codon 351 is replaced by isoleucine, an amino acid with highly 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.
Color Diagnostics, LLC DBA Color Health RCV000562130 SCV000910115 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing

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