Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633461 | SCV000754690 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2019-09-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants 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 has been observed as homozygous or in combination with another GALNS pathogenic variant in individuals affected with mucopolysaccharidosis IVA (PMID: 9298823, 23876334). This variant is also known as IVS8+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 528323). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects a donor splice site in intron 8 of the GALNS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000633461 | SCV001547826 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Splicing variant in canonical site (PVS1_very strong); 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) |
Genome- |
RCV000633461 | SCV002045008 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing |