Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578436 | SCV001547979 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | Absent from gnomAD v2.1.1 (PM2_moderate) |
Laboratory of Inherited Metabolic Diseases, |
RCV001578436 | SCV002104178 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | criteria provided, single submitter | research | The patients blood mRNA analysis demonstrated the alteration of splicing. | |
Labcorp Genetics |
RCV001578436 | SCV002311680 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2023-12-07 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 13 of the GALNS gene. It does not directly change the encoded amino acid sequence of the GALNS protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has been observed in individual(s) with mucopolysaccharidosis type IVA (PMID: 34387910; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1048334). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |