Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790674 | SCV000230937 | pathogenic | not provided | 2013-05-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000178782 | SCV000825972 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 93179). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis IVA (PMID: 23876334). This variant is present in population databases (rs398123439, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp159*) in the GALNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000178782 | SCV001547710 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | Nonsense variant (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_strong); very low frequency in gnomAD v2.1.1 (PM2_moderate) |
Revvity Omics, |
RCV000178782 | SCV002024148 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2022-06-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000178782 | SCV002045024 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000178782 | SCV002814701 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-08-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000790674 | SCV005389508 | pathogenic | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23876334, 27694994) |