Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813343 | SCV000953701 | pathogenic | Fucosidosis | 2022-09-24 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the FUCA1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in FUCA1 are known to be pathogenic (PMID: 10094192). A similar copy number variant has been observed in individual(s) with fucosidosis (PMID: 10094192). For these reasons, this variant has been classified as Pathogenic. |