ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1414G>T (p.Glu472Ter)

gnomAD frequency: 0.00001  dbSNP: rs1376550081
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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 RCV000575912 SCV000666408 pathogenic Hereditary cancer-predisposing syndrome 2016-01-28 criteria provided, single submitter clinical testing The p.E472* pathogenic mutation (also known as c.1414G>T), located in coding exon 12 of the MRE11A gene, results from a G to T substitution at nucleotide position 1414. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV001052429 SCV001216639 pathogenic Ataxia-telangiectasia-like disorder 2019-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu472*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 481748). Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). For these reasons, this variant has been classified as Pathogenic.

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