ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) (rs115244417)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129222 SCV000183976 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000396813 SCV000374935 benign Ataxia-telangiectasia-like disorder 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Counsyl RCV000396813 SCV000488590 benign Ataxia-telangiectasia-like disorder 1 2016-06-03 criteria provided, single submitter clinical testing
Invitae RCV001080118 SCV000558609 benign Ataxia-telangiectasia-like disorder 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589426 SCV000698599 benign not provided 2016-05-06 criteria provided, single submitter clinical testing Variant summary: The MRE11A c.1002C>G variant affects a non-conserved nucleotide, resulting in amino acid change from Ser to Arg. 2/3 in-silico tools predict this variant to be benign (SNPs&GO and Mutation Taster not captured due to low reliability index). This variant was found in 502/120966 control chromosomes (8 homozygotes) at a frequency of 0.0041499, which is about 66 times the maximal expected frequency of a pathogenic MRE11A allele (0.0000625), highly suggesting this variant is benign. In addition, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.
Athena Diagnostics Inc RCV001289100 SCV001476691 benign not specified 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000396813 SCV001477539 benign Ataxia-telangiectasia-like disorder 1 2020-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000589426 SCV001753769 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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