ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1441del (p.Thr481fs)

dbSNP: rs747832587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199221 SCV000253892 pathogenic Hereditary cancer-predisposing syndrome 2015-06-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 13 of the MRE11A mRNA (c.1441delA), causing a frameshift at codon 481. This creates a premature translational stop signal (p.Thr481Hisfs*43) and 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.
Invitae RCV001384423 SCV001583914 pathogenic Ataxia-telangiectasia-like disorder 2021-08-31 criteria provided, single submitter clinical testing

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