Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578411 | SCV001547855 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004800986 | SCV005422187 | likely pathogenic | Morquio syndrome | 2024-10-23 | criteria provided, single submitter | clinical testing | Variant summary: GALNS c.950G>A (p.Gly317Glu) results in a non-conservative amino acid change located in the Sulfatase, N-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250648 control chromosomes. c.950G>A has been reported in the literature in individuals affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A) (examples: Caciotti_2015 and Leong_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Different variant affecting this residue has been classified Pathogenic in ClinVar (c.949G>C (p.Gly317Arg) Variation ID: 1048310). ClinVar contains an entry for this variant (Variation ID: 1048311). Based on the evidence outlined above, the variant was classified as likely pathogenic. |