ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1953del (p.Lys651fs)

dbSNP: rs1580996563
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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 RCV001013823 SCV001174456 pathogenic Hereditary cancer-predisposing syndrome 2019-08-28 criteria provided, single submitter clinical testing The c.1953delA pathogenic mutation, located in coding exon 12 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 1953, causing a translational frameshift with a predicted alternate stop codon (p.K651Nfs*23). 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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