ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1456A>G (p.Lys486Glu) (rs767896176)

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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 RCV000568897 SCV000662183 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing The p.K486E variant (also known as c.1456A>G), located in coding exon 12 of the MRE11A gene, results from an A to G substitution at nucleotide position 1456. The lysine at codon 486 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is 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 RCV001335298 SCV001528416 uncertain significance Ataxia-telangiectasia-like disorder 1 2018-07-24 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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