Submissions for variant NC_000001.10:g.(?_861322)_(3768971_?)del

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001919157	SCV002244419	pathogenic	Peroxisome biogenesis disorder, complementation group 7	2022-10-17	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the PEX10 gene has been identified. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596). 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 PEX10-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001923367	SCV002179189	uncertain significance	Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity	2022-10-17	flagged submission	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the B3GALT6 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in B3GALT6 cause disease. 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 B3GALT6 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 19492091). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001919158	SCV002207737	uncertain significance	Combined immunodeficiency due to OX40 deficiency	2022-09-19	flagged submission	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the TNFRSF4 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNFRSF4 cause disease. 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 TNFRSF4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001919159	SCV002213876	uncertain significance	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	2022-09-19	flagged submission	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the ISG15 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ISG15 cause disease. 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 ISG15-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001923368	SCV002244562	pathogenic	Joubert syndrome 25	2022-10-17	flagged submission	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the CEP104 gene has been identified. Loss-of-function variants in CEP104 are known to be pathogenic (PMID: 26477546). 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 CEP104-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001943250	SCV002275296	uncertain significance	not provided	2021-11-26	flagged submission	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the GNB1 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GNB1 cause disease. 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 GNB1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 31674007). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.