Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514573 | SCV003441998 | pathogenic | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 1 of the ADGRG1 gene. It does not directly change the encoded amino acid sequence of the ADGRG1 protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has been observed in individuals with restricted polymicrogyria (PMID: 24531968). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects ADGRG1 function (PMID: 24531968). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000114942 | SCV000148844 | pathogenic | Polymicrogyria, bilateral perisylvian, autosomal recessive | 2014-02-14 | no assertion criteria provided | literature only |