Total submissions: 3
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 | 2015-06-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in MRE11A are known to be pathogenic (PMID: 10612394, 11371508). 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. |
Baylor Genetics | RCV003468896 | SCV004193801 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2023-08-31 | criteria provided, single submitter | clinical testing |