ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.574C>T (p.Gln192Ter)

dbSNP: rs2091602962
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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 RCV002348857 SCV002649710 pathogenic Hereditary cancer-predisposing syndrome 2020-11-10 criteria provided, single submitter clinical testing The p.Q192* pathogenic mutation (also known as c.574C>T), located in coding exon 6 of the RAD51D gene, results from a C to T substitution at nucleotide position 574. This changes the amino acid from a glutamine to a stop codon within coding exon 6. 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.
CZECANCA consortium RCV001271050 SCV001451869 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing
China-NCC-Department of Gynecologic Oncology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College RCV002463462 SCV002754417 pathogenic Ovarian neoplasm no assertion criteria provided clinical testing

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