ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)

dbSNP: rs1555622242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673665 SCV000798893 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2018-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001218806 SCV001390710 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-01-15 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.Arg626*) have been determined to be pathogenic (PMID: 8650226, 9832037, 10094189). 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: 557513). This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln365*) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 379 amino acid(s) of the NAGLU protein.
Revvity Omics, Revvity RCV001784286 SCV002018192 pathogenic not provided 2020-04-23 criteria provided, single submitter clinical testing

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