Submissions for variant NC_000019.9:g.(?_10828919)_(13482613_?)dup

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003122092	SCV003790774	uncertain significance	Glutaric aciduria, type 1	2022-08-06	criteria provided, single submitter	clinical testing	A copy number gain of the genomic region encompassing the full coding sequence of the GCDH gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with GCDH-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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	RCV003109234	SCV003792254	uncertain significance	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2022-08-06	criteria provided, single submitter	clinical testing	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 4-47 of the CACNA1A gene. This region includes the termination codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003109232	SCV003794186	uncertain significance	Deficiency of alpha-mannosidase	2022-08-06	criteria provided, single submitter	clinical testing	A copy number gain of the genomic region encompassing the full coding sequence of the MAN2B1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with MAN2B1-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	RCV003109233	SCV003794425	uncertain significance	Charcot-Marie-Tooth disease dominant intermediate B	2022-08-06	criteria provided, single submitter	clinical testing	A copy number gain of the genomic region encompassing the full coding sequence of the DNM2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with DNM2-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.