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 2023-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 481748). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341).

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