Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000585981 | SCV000694143 | pathogenic | Mucopolysaccharidosis type 6 | 2016-05-19 | criteria provided, single submitter | clinical testing | Variant summary: The ARSB c.116_123delCCGGGGCC (p.Ala39Glufs) variant results in a premature termination codon, predicted to cause a truncated or absent ARSB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in ClinVar (e.g.c.238delG/p.Val80Cysfs). One in silico tool predicts a damaging outcome for this variant. This variant has been reported in at least one MPS6 patient without detectable ARSB protein or activity. The variant is absent in 38156 control chromosomes. Taken together, this variant is classified as pathogenic. |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000585981 | SCV000802962 | pathogenic | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Frameshift variant (PVS1); In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2) |
Natera, |
RCV000585981 | SCV001457631 | pathogenic | Mucopolysaccharidosis type 6 | 2020-09-16 | no assertion criteria provided | clinical testing |