Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostic Laboratory, |
RCV001260798 | SCV001437891 | likely pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
3billion | RCV001030438 | SCV002521384 | pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Frameshift: 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. The variant has been previously reported as de novo in a similarly affected individual (PMID: 32109419). The variant has been reported to be associated with TRIO related disorder (ClinVar ID: VCV000830230). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252297 | SCV002523374 | likely pathogenic | See cases | 2019-12-11 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PM2 |
Gene |
RCV002272390 | SCV002558090 | pathogenic | not provided | 2022-07-29 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32109419) |
OMIM | RCV001030438 | SCV001193446 | pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2020-03-31 | no assertion criteria provided | literature only |