Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631416 | SCV000752489 | pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome | 2017-12-11 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the HPRT1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been detected in several individuals affected with Lesch-Nyhan disease (PMID: 11018746, 23975452). Loss-of-function variants in HPRT1 are known to be pathogenic (PMID: 15571220, 17027311, 22157001). For these reasons, this variant has been classified as Pathogenic. |