ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.216C>G (p.Tyr72Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004440062 SCV004933503 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.
Ambry Genetics RCV004440063 SCV005019463 pathogenic Hereditary cancer-predisposing syndrome 2024-01-11 criteria provided, single submitter clinical testing The p.Y72* pathogenic mutation (also known as c.216C>G), located in coding exon 3 of the RAD51D gene, results from a C to G substitution at nucleotide position 216. This changes the amino acid from a tyrosine 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.

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