Submissions for variant NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002419116	SCV002678636	pathogenic	Hereditary cancer-predisposing syndrome	2019-04-13	criteria provided, single submitter	clinical testing	The p.Q267* variant (also known as c.799C>T), located in coding exon 5 of the RAD51C gene, results from a C to T substitution at nucleotide position 799. This changes the amino acid from a glutamine to a stop codon within coding exon 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	RCV003507430	SCV004364987	pathogenic	Fanconi anemia complementation group O	2023-12-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln267*) 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, 29278735). 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: 1761543). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc.	RCV004055352	SCV004933285	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 3	2024-01-03	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Laboratory for Genotyping Development, RIKEN	RCV003164539	SCV002758219	pathogenic	Gastric cancer	2021-07-01	no assertion criteria provided	research