ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)

gnomAD frequency: 0.00003  dbSNP: rs587781384
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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 RCV000129216 SCV000183967 pathogenic Hereditary cancer-predisposing syndrome 2017-09-24 criteria provided, single submitter clinical testing The p.E506* pathogenic mutation (also known as c.1516G>T), located in coding exon 13 of the MRE11A gene, results from a G to T substitution at nucleotide position 1516. This changes the amino acid from a glutamic acid to a stop codon within coding exon 13. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
University of Washington Department of Laboratory Medicine,University of Washington RCV000129216 SCV000266186 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513255 SCV000608613 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000797374 SCV000936928 pathogenic Ataxia-telangiectasia-like disorder 2021-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu506*) 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). This variant is present in population databases (rs587781384, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer, fallopian tube cancer, and lung cancer (PMID: 24763289, 26786923, 26845104, 28125075). ClinVar contains an entry for this variant (Variation ID: 140941). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000988624 SCV001138408 pathogenic Ataxia-telangiectasia-like disorder 1 2019-05-28 criteria provided, single submitter clinical testing

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