Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV004581559 | SCV005066887 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2023-09-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GALNS protein in which other variant(s) (p.Met494Val) have been determined to be pathogenic (PMID: 9298823, 23876334; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with Mucopolysaccharidosis type IVA (PMID: 34813777). This variant is a gross deletion of the genomic region encompassing exon(s) 2-13 of the GALNS gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. |