Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193132 | SCV001361769 | pathogenic | Morquio syndrome | 2019-03-18 | criteria provided, single submitter | clinical testing | Variant summary: GALNS c.689G>A (p.Trp230X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246200 control chromosomes (gnomAD). c.689G>A has been reported in the literature in two siblings affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A)(Montano_2003). These data indicate that the variant may be associated with disease. A functional study, Montano_2003, showed the variant to have no detectable activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000000746 | SCV001547769 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Nonsense variant (PVS1_very strong); in vitro and in vivo 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); absent from gnomAD v2.1.1 (PM2_moderate) |
| Genome- |
RCV000000746 | SCV002045015 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000000746 | SCV000020896 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2003-07-01 | no assertion criteria provided | literature only |