Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599515 | SCV000710364 | pathogenic | not provided | 2018-01-29 | criteria provided, single submitter | clinical testing | The c.792_794delGTT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The cc.792_794delGTT variant is not observed in large population cohorts (Lek et al., 2016). The c.792_794delGTT variant results in an in-frame replacement of 2 correct amino acids with 1 incorrect amino acid denoted p.Lys264_Phe265delinsAsn. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The presence of this pathogenic variant is consistent with the diagnosis of a DYRK1A-related disorder in this individual. |