ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.426C>T (p.Asp142=) (rs3218740)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212554 SCV000211155 benign not specified 2013-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000160570 SCV000212880 likely benign Hereditary cancer-predisposing syndrome 2014-07-25 criteria provided, single submitter clinical testing
Invitae RCV001079573 SCV000253448 benign Ataxia-telangiectasia-like disorder 2019-12-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212554 SCV000337503 likely benign not specified 2015-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362540 SCV000374943 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Counsyl RCV000362540 SCV000488975 likely benign Ataxia-telangiectasia-like disorder 1 2016-07-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755569 SCV000604246 likely benign not provided 2017-08-10 criteria provided, single submitter clinical testing The c.426C>T variant (rs3218740) does not alter the amino acid sequence of the MRE11A protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with primary antibody deficiency in medical literature or in gene specific variation databases. This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.14 percent (identified on 18 out of 12,998 chromosomes) and is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.113 percent (identified on 137 out of 121,042 chromosomes). Based on these observations, the c.426C>T variant is likely to be benign.
Athena Diagnostics Inc RCV000755569 SCV001144545 benign not provided 2018-12-21 criteria provided, single submitter clinical testing

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