ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)

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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 RCV003046951 SCV003340465 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-05-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln566*) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 178 amino acid(s) of the NAGLU protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 27590925). 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.

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