ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) (rs1554098250)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567846 SCV000666999 pathogenic Hereditary cancer-predisposing syndrome 2016-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000781782 SCV000920108 likely pathogenic Nijmegen breakage syndrome-like disorder 2018-01-19 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.1174_1177delCAGA (p.Gln392LeufsX8) variant results in a premature termination codon, predicted to cause a truncated or absent RAD50 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 245944 control chromosomes. In addition, one clinical diagnostic laboratory/reputable database classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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