ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1336del (p.Glu446fs)

dbSNP: rs2143109467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972426 SCV002243037 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2020-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu446Argfs*30) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 298 amino acid(s) of the NAGLU protein. This variant is not present in population databases (ExAC no frequency). This frameshift has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 9832037). This variant disrupts the C-terminus of the NAGLU protein. Other variant(s) that disrupt this region (p.Arg626*) have been determined to be pathogenic (PMID: 9832037, 8650226, 10094189). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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