Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001252976 | SCV001428460 | likely pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2019-04-30 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001255325 | SCV001431711 | likely pathogenic | Intellectual disability | 2020-08-03 | criteria provided, single submitter | clinical testing | The variant c.2545C>T, p.(Gln849*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual. |
3billion | RCV001252976 | SCV002011994 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2021-10-02 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported as pathogenic (ClinVar ID: VCV000975860.2).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |