Submissions for variant NM_058216.3(RAD51C):c.338del (p.Gly113fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002451895	SCV002616239	pathogenic	Hereditary cancer-predisposing syndrome	2020-11-16	criteria provided, single submitter	clinical testing	The c.338delG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 338, causing a translational frameshift with a predicted alternate stop codon (p.G113Vfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003099445	SCV003324178	pathogenic	Fanconi anemia complementation group O	2022-03-17	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gly113Valfs*5) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). 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. For these reasons, this variant has been classified as Pathogenic.