ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)

dbSNP: rs876660186
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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 RCV000218839 SCV000277395 pathogenic Hereditary cancer-predisposing syndrome 2019-03-15 criteria provided, single submitter clinical testing The c.1633_1640delCTTATGAG pathogenic mutation, located in coding exon 14 of the MRE11A gene, results from a deletion of 8 nucleotides at nucleotide positions 1633 to 1640, causing a translational frameshift with a predicted alternate stop codon (p.L545Yfs*9). 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 RCV002229304 SCV002509594 pathogenic Ataxia-telangiectasia-like disorder 2020-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu545Tyrfs*9) 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 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: 233090). For these reasons, this variant has been classified as Pathogenic.

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