Submissions for variant NC_000009.11:g.(?_130374683)_(131329276_?)del

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004581888	SCV005067228	pathogenic	Early infantile epileptic encephalopathy with suppression bursts	2023-09-11	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the STXBP1 gene has been identified. Loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of STXBP1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 18469812, 22722545, 26514728, 26865513, 29264391; Invitae). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004581887	SCV005067374	pathogenic	Developmental and epileptic encephalopathy, 31A	2023-09-11	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the DNM1 gene has been identified. Loss-of-function variants in DNM1 are known to be pathogenic (PMID: 34172529). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with DNM1-related conditions. For these reasons, this variant has been classified as Pathogenic.