ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)

dbSNP: rs779269083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine,University of Washington RCV000210166 SCV000266188 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000210166 SCV000278392 pathogenic Hereditary cancer-predisposing syndrome 2020-01-07 criteria provided, single submitter clinical testing The p.E77* pathogenic mutation (also known as c.229G>T), located in coding exon 3 of the MRE11A gene, results from a G to T substitution at nucleotide position 229. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. 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.
Invitae RCV002229537 SCV002509494 pathogenic Ataxia-telangiectasia-like disorder 2021-09-01 criteria provided, single submitter clinical testing

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