Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001386244 | SCV001586387 | pathogenic | Mucopolysaccharidosis type 6 | 2020-09-24 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 2-3 of the ARSB gene. It preserves the integrity of the reading frame. This variant has been observed in individuals, a family, several families affected with mucopolysaccharidosis type VI (PMID: 25190157, 27797586). This variant disrupts the p.Tyr210 amino acid residue in ARSB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8651289, 21514195, 24221504, 23557332, 17458871, 11939792). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |