Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031552 | SCV001194858 | pathogenic | Cataract 21 multiple types; Ayme-Gripp syndrome | 2021-08-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the MAF gene has been identified. Loss-of-function variants in MAF are known to be pathogenic (PMID: 25865493). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with congenital cataracts, tall stature and learning difficulties (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. |