Submissions for variant NM_002878.4(RAD51D):c.388C>T (p.Gln130Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002366346	SCV002624298	pathogenic	Hereditary cancer-predisposing syndrome	2022-09-10	criteria provided, single submitter	clinical testing	The p.Q130* pathogenic mutation (also known as c.388C>T), located in coding exon 5 of the RAD51D gene, results from a C to T substitution at nucleotide position 388. This changes the amino acid from a glutamine to a stop codon within coding exon 5. 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.
Color Diagnostics, LLC DBA Color Health	RCV002366346	SCV004357166	pathogenic	Hereditary cancer-predisposing syndrome	2022-03-10	criteria provided, single submitter	clinical testing	This variant changes 1 nucleotide in exon 5 of the RAD51D gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of RAD51D function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Baylor Genetics	RCV004572267	SCV005054042	likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4	2023-11-19	criteria provided, single submitter	clinical testing