Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001377627 | SCV001547660 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | Splicing variant in canonical site (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); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_moderate); very low frequency in gnomAD v2.1.1 (PM2_moderate) |
Labcorp Genetics |
RCV001377627 | SCV001575009 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 3 of the GALNS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type IVA (PMID: 23876334, 34387910). ClinVar contains an entry for this variant (Variation ID: 1048189). 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. |
Revvity Omics, |
RCV001377627 | SCV002024157 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001377627 | SCV002045032 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing |