ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter)

dbSNP: rs1555570285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574419 SCV000671961 pathogenic Hereditary cancer-predisposing syndrome 2024-07-22 criteria provided, single submitter clinical testing The p.Q60* pathogenic mutation (also known as c.178C>T), located in coding exon 3 of the RAD51D gene, results from a C to T substitution at nucleotide position 178. This changes the amino acid from a glutamine to a stop codon within coding exon 3. 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. RCV004024505 SCV004933488 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.
CZECANCA consortium RCV001271009 SCV001451821 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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