ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1032T>G (p.Leu344=) (rs11020793)

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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 RCV000129049 SCV000183744 benign Hereditary cancer-predisposing syndrome 2014-12-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
GeneDx RCV000212565 SCV000211160 benign not specified 2014-01-09 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.
Invitae RCV000586471 SCV000261668 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000410736 SCV000488849 benign Ataxia-telangiectasia-like disorder 1 2016-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586471 SCV000698600 benign not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The MRE11A c.1032T>G (p.Leu344Leu) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change located in the Mre11, DNA-binding (IPR007281) (InterPro). One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in a large, broad control population, ExAC in 321/121170 control chromosomes (9 homozygotes) at a frequency of 0.0026492, which is approximately 42 times the estimated maximal expected allele frequency of a pathogenic MRE11A variant (0.0000625), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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