Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578344 | SCV001547970 | 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, |
RCV004690089 | SCV005185957 | uncertain significance | not specified | 2024-05-03 | criteria provided, single submitter | clinical testing | Variant summary: GALNS c.1451C>T (p.Pro484Leu) results in a non-conservative amino acid change in 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 200542 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1451C>T has been reported in the literature in one individual affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A) (Huang_2018, Yi_2022). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30138938, 35212421). ClinVar contains an entry for this variant (Variation ID: 1048242). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV001578344 | SCV005641457 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2024-05-02 | criteria provided, single submitter | clinical testing |