Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032472 | SCV001195779 | uncertain significance | Congenital muscular hypertrophy-cerebral syndrome | 2019-10-30 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the SMC1A gene. 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. A similar variant has been observed to be homozygous or hemizygous in an individual who was not affected with an SMC1A-related condition (Invitae). Isolated whole-gene copy number gains of SMC1A have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 23683030, 19052029). 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. |
Invitae | RCV001372178 | SCV001568787 | uncertain significance | Intellectual disability, X-linked 1 | 2020-07-14 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 1-8 of the IQSEC2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 8 of the IQSEC2 gene. 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 with IQSEC2-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. |