Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385946 | SCV001585967 | pathogenic | Hereditary fructosuria | 2021-08-21 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2-6 of the ALDOB gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450). A similar copy number variant has been observed in individuals with fructose intolerance (PMID: 20848650, 22494545, 23430936). This variant is also known as g.7840_14288del6448. For these reasons, this variant has been classified as Pathogenic. |