ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.965del (p.Leu322fs)

dbSNP: rs786203403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166691 SCV000217499 pathogenic Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing The c.965delT pathogenic mutation, located in coding exon 7 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 965, causing a translational frameshift with a predicted alternate stop codon (p.L322Wfs*2). 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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