ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1143del (p.Phe381fs)

dbSNP: rs863224508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197350 SCV000253891 pathogenic Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 381 (p.Phe381Leufs*9). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MRE11A are known to be pathogenic PMID: 10612394, 11371508). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000197350 SCV000669645 pathogenic Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing The c.1143delT pathogenic mutation, located in coding exon 10 of the MRE11A gene, results from a deletion of one nucleotide at nucleotide position 1143, causing a translational frameshift with a predicted alternate stop codon. 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 RCV001067349 SCV001232406 pathogenic Ataxia-telangiectasia-like disorder 2019-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe381Leufs*9) 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: 216094). 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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