Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000000733 | SCV001547754 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | In vivo and in vitro functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; low to null in vitro enzymatic activity; PS3_moderate); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_moderate); absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence suggest no impact on gene or gene product (BP4_supporting) |
OMIM | RCV000000733 | SCV000020883 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 1992-09-01 | no assertion criteria provided | literature only | |
Gene |
RCV000000733 | SCV001761895 | not provided | Mucopolysaccharidosis, MPS-IV-A | no assertion provided | literature only |