ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1063del (p.Gln355fs)

dbSNP: rs1180591588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673953 SCV000799214 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2018-04-06 criteria provided, single submitter clinical testing
Invitae RCV001861828 SCV002233826 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-09-24 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.Gln706*) have been determined to be pathogenic (PMID: 9443875, 29661560). 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: 557773). 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.Gln355Serfs*66) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 389 amino acid(s) of the NAGLU protein.

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