Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813330 | SCV000953688 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2018-09-10 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 8-15 of the PMS2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it 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. Similar gain of exons 8-15 has not been reported in the literature in individuals with PMS2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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. |