ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.260G>A (p.Arg87His) (rs374561375)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115943 SCV000187174 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000662847 SCV000785714 uncertain significance Nijmegen breakage syndrome-like disorder 2017-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000656958 SCV000149852 uncertain significance not provided 2014-03-04 criteria provided, single submitter clinical testing RAD50 has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted RAD50 c.260G>A at the cDNA level, p.Arg87His (R87H) at the protein level, and results in the change of an Arginine to a Histidine (CGT>CAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD50 Arg87His was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Arginine and Histidine share similar properties, this is considered a conservative amino acid substitution and is unlikely to affect protein integrity. RAD50 Arg87His occurs at a position that is moderately conserved across species and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. At a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the RAD50 gene, remain unclear.
Genetic Services Laboratory, University of Chicago RCV000212900 SCV000596678 uncertain significance not specified 2016-02-10 criteria provided, single submitter clinical testing
Invitae RCV000115943 SCV000259567 likely benign Hereditary cancer-predisposing syndrome 2017-11-23 criteria provided, single submitter clinical testing

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