ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.574C>T (p.Leu192Phe)

dbSNP: rs587782515
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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 RCV000131667 SCV000186695 uncertain significance Hereditary cancer-predisposing syndrome 2013-05-16 criteria provided, single submitter clinical testing Co-segregation data for this variant is currently unavailable. This variant has been detected in conjunction with a pathogenic mutation in BRIP1 in one individual tested by our laboratory (this case). Allele frequency data in population-based cohorts is not currently available. This amino acid position is well conserved through mammals.This alteration is predicted to be possibly damaging with a score of 0.883 (sensitivity: 0.71; specificity: 0.89)This alteration is predicted to be deleterious with a score of 0.000 (conservation: 1.49)

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