Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696910 | SCV000825491 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-03-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NAGLU protein in which other variant(s) (p.Val77Gly) have been determined to be pathogenic (PMID: 16151907, 30809705). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 574862). This variant has been observed in individual(s) with clinical features of autosomal recessive mucopolysaccharidosis type III (PMID: 20852935). This variant is not present in population databases (gnomAD no frequency). This variant, c.214_237del, results in the deletion of 8 amino acid(s) of the NAGLU protein (p.Ala72_Gly79del), but otherwise preserves the integrity of the reading frame. |