Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803275 | SCV000943138 | pathogenic | Cystinuria | 2022-10-12 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 5-9 of the SLC3A1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame. A similar copy number variant has been observed in individuals with cystinuria (PMID: 14531788; Invitae). For these reasons, this variant has been classified as Pathogenic. |