Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820582 | SCV000961299 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 1C | 2018-12-25 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon 3 of the SPTLC2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SPTLC2-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SPTLC2 cause disease. 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. |