Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243782 | SCV001416964 | pathogenic | DICER1-related tumor predisposition | 2021-06-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile1102Serfs*40) in the DICER1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DICER1 are known to be pathogenic (PMID: 19556464, 21266384). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DICER1-related conditions. This variant is not present in population databases (ExAC no frequency). |
Ambry Genetics | RCV002322154 | SCV002607090 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-10 | criteria provided, single submitter | clinical testing | The c.3304_3311delATTGACAGinsT pathogenic mutation, located in coding exon 20 of the DICER1 gene, results from the deletion of 8 nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.I1102Sfs*40). 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. |