ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376151 SCV002683616 likely benign Hereditary cancer-predisposing syndrome 2024-05-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100056 SCV003249639 uncertain significance Fanconi anemia complementation group O 2022-02-10 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 298 of the RAD51C protein (p.Val298Ile).
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003314040 SCV004013449 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-07-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and nonpolar, at codon 298 of the RAD51C protein (p.Val298Ile). This variant is not present in population databases (gnomAD no frequency). ClinVar contain an entry for this variant ( variant ID:1765749) classified as uncertain significance variant . This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign" . T 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.

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