ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.514C>T (p.Leu172Phe)

dbSNP: rs876660732
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543843 SCV000650015 uncertain significance Fanconi anemia complementation group O 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 172 of the RAD51C protein (p.Leu172Phe). 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: 471444). 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 not expected to disrupt RAD51C protein function with a negative predictive value of 80%. 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.
Sema4, Sema4 RCV002256384 SCV002531825 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-09 criteria provided, single submitter curation
Ambry Genetics RCV002256384 SCV004934333 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing The c.514C>T (p.L172F) alteration is located in exon 3 (coding exon 3) of the RAD51C gene. This alteration results from a C to T substitution at nucleotide position 514, causing the leucine (L) at amino acid position 172 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV004553239 SCV005043334 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2024-05-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 172 of the RAD51C protein (p.Leu172Phe).This aminoacid is mild conservative (PhyloP=2.21). 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: 471444). in silico predictions of the variant's effect on protein function are inconclusive. 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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