ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) (rs138749920)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115944 SCV000183924 likely benign Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
Fulgent Genetics,Fulgent Genetics RCV000515220 SCV000611513 uncertain significance Nijmegen breakage syndrome-like disorder 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000212919 SCV000149853 uncertain significance not provided 2014-02-11 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.2647C>T at the cDNA level, p.Arg883Cys (R883C) at the protein level, and results in the change of an Arginine to a Cysteine (CGT>TGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD50 Arg883Cys was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. This variant is a non-conservative substitution in which a positive polar amino acid is replaced with a neutral polar one, altering a position that is moderately conserved throughout evolution and is not located in a known functional domain. Multiple in silico algorithms predict that this variant may be damaging to protein structure and function. On 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.
Invitae RCV000115944 SCV000254891 likely benign Hereditary cancer-predisposing syndrome 2017-12-27 criteria provided, single submitter clinical testing

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