ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1126T>A (p.Leu376Ile)

dbSNP: rs864622632
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204518 SCV000261471 uncertain significance Fanconi anemia complementation group O 2022-09-01 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 220706). 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 leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 376 of the RAD51C protein (p.Leu376Ile).
Ambry Genetics RCV000572046 SCV000671883 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-08 criteria provided, single submitter clinical testing The p.L376I variant (also known as c.1126T>A), located in coding exon 9 of the RAD51C gene, results from a T to A substitution at nucleotide position 1126. The leucine at codon 376 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV000572046 SCV001358459 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001770155 SCV002002484 uncertain significance not provided 2021-01-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV000572046 SCV002531790 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-15 criteria provided, single submitter curation

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