ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.980G>A (p.Arg327His) (rs28903091)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115966 SCV000053551 benign Hereditary cancer-predisposing syndrome 2014-07-25 criteria provided, single submitter clinical testing
Counsyl RCV000409977 SCV000488748 uncertain significance Nijmegen breakage syndrome-like disorder 2016-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000656959 SCV000149875 uncertain significance not provided 2014-02-27 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.980G>A at the cDNA level, p.Arg327His (R327H) at the protein level, and results in the change of an Arginine to a Histidine (CGT>CAT). This variant has been reported in one individual with familial breast cancer (Tommiska 2006). RAD50 Arg327His was observed with an allele frequency of 0.3% (29/8598) in European Americans in the NHLBI Exome Sequencing Project. This variant is a conservative substitution of one positive polar amino acid for another, altering a position that is well conserved throughout evolution and is located in a putative coiled coil domain. Multiple in silico algorithms predict that this variant may be damaging to 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.
GeneKor MSA RCV000115966 SCV000821804 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193234 SCV000248652 uncertain significance not specified 2014-12-07 criteria provided, single submitter clinical testing
Invitae RCV000115966 SCV000252806 benign Hereditary cancer-predisposing syndrome 2018-01-11 criteria provided, single submitter clinical testing

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