ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.123T>G (p.Asp41Glu) (rs1398118094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010518 SCV001170732 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing The p.D41E variant (also known as c.123T>G), located in coding exon 2 of the MRE11A gene, results from a T to G substitution at nucleotide position 123. The aspartic acid at codon 41 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001292974 SCV001481690 uncertain significance Ataxia-telangiectasia-like disorder 1 2019-01-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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