Submissions for variant NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter)

dbSNP: rs374357106

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467492	SCV000551338	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4	2016-04-21	criteria provided, single submitter	clinical testing	While this particular variant has not been reported in the literature, truncating variants in RAD51D are known to be pathogenic (PMID: 21822267). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 62 (p.Ser62*) of the RAD51D gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics	RCV002411492	SCV002724076	pathogenic	Hereditary cancer-predisposing syndrome	2024-06-10	criteria provided, single submitter	clinical testing	The p.S62* pathogenic mutation (also known as c.185C>A), located in coding exon 3 of the RAD51D gene, results from a C to A substitution at nucleotide position 185. This changes the amino acid from a serine to a stop codon within coding exon 3. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Myriad Genetics, Inc.	RCV000467492	SCV004933486	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4	2024-01-04	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.