Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001033051 | SCV001196358 | pathogenic | Myasthenic syndrome, congenital, 22 | 2019-06-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-14 of the PREPL gene. The 5' boundary is likely confined to intron 1. If SLC3A1 has been tested and no copy number events are reported for it, then the 3' boundary of this event lies between the PREPL and SLC3A1 genes. If SLC3A1 has not been tested, the 3' end of this event is unknown as it extends beyond the assayed region of this test. This is expected to result in an absent or disrupted protein product.. Isolated deletions of exons 2-14 of PREPL have not been reported in the literature. However, larger copy number events that include this region have been reported in individuals affected with hypotonia-cystinuria syndrome (PMID: 24610330, 22796000, 24610330). For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV001388551 | SCV001589562 | pathogenic | Cystinuria | 2019-05-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 10 of the SLC3A1 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has been observed in individuals affected with cystinuria and to segregate with disease in a family (PMID: 19782624, 10737983). For these reasons, this variant has been classified as Pathogenic. |