ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1222dup (p.Thr408fs)

dbSNP: rs774440500
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163829 SCV000214415 pathogenic Hereditary cancer-predisposing syndrome 2018-09-21 criteria provided, single submitter clinical testing The c.1222dupA pathogenic mutation, located in coding exon 10 of the MRE11A gene, results from a duplication of A at nucleotide position 1222, causing a translational frameshift with a predicted alternate stop codon (p.T408Nfs*49). This mutation has been identified in a proband with pancreatic cancer (Hu C et al. JAMA 2018 06;319(23):2401-2409). 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.
CeGaT Center for Human Genetics Tuebingen RCV000761797 SCV000891994 likely pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV001052500 SCV001216712 pathogenic Ataxia-telangiectasia-like disorder 2021-08-26 criteria provided, single submitter clinical testing

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