Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206725 | SCV001378047 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2022-06-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 937662). This variant is also known as 901delAA. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis IIIB (PMID: 9443878). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys301Argfs*15) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). |