ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.24T>A (p.Phe8Leu)

dbSNP: rs587782698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132138 SCV000187209 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-20 criteria provided, single submitter clinical testing The p.F8L variant (also known as c.24T>A), located in coding exon 1 of the RAD51C gene, results from a T to A substitution at nucleotide position 24. The phenylalanine at codon 8 is replaced by leucine, an amino acid with highly 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587595 SCV000699800 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The RAD51C c.24T>A (p.Phe8Leu) variant involves the alteration of a non-conserved nucleotide, which 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome for this variant. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP). A publication reports the variant to be observed as a somatic occurrence in a osteosarcoma tumor. A clinical diagnostic laboratory classifies the variant as "uncertain significance." Therefore, until additional information becomes available (ie, clinical and/or functional studies). The variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Invitae RCV001038734 SCV001202222 uncertain significance Fanconi anemia complementation group O 2023-02-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 8 of the RAD51C protein (p.Phe8Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 142757). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAD51C protein function. 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.
Color Diagnostics, LLC DBA Color Health RCV000132138 SCV001356628 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-11 criteria provided, single submitter clinical testing

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