Submissions for variant NC_000003.11:g.(?_48895920)_(49570632_?)del

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004580969	SCV005066271	pathogenic	Carnitine acylcarnitine translocase deficiency	2023-12-01	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon(s) 1-8 of the SLC25A20 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A20 are known to be pathogenic (PMID: 25614308). This variant has not been reported in the literature in individuals affected with SLC25A20-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004580970	SCV005066322	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	2023-12-01	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the DAG1 gene has been identified. Loss-of-function variants in DAG1 are known to be pathogenic (PMID: 25934851). 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 DAG1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 20234391). For these reasons, this variant has been classified as Pathogenic.