Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000000739 | SCV001547962 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Nonsense variant (PVS1_very strong); in vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); absent from gnomAD v2.1.1 (PM2_moderate) |
Labcorp Genetics |
RCV000000739 | SCV003443641 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2022-08-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln473*) in the GALNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type IVA (PMID: 7581409, 33752727). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 704). |
OMIM | RCV000000739 | SCV000020889 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 1995-01-01 | no assertion criteria provided | literature only |