ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1813G>T (p.Glu605Ter)

dbSNP: rs1580996388
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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 RCV001013282 SCV001173850 pathogenic Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing The p.E605* pathogenic mutation (also known as c.1813G>T), located in coding exon 12 of the RAD50 gene, results from a G to T substitution at nucleotide position 1813. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. 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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