ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)

dbSNP: rs762031686
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674733 SCV000800124 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768013 SCV004571434 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-01-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 558459). 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.Val724Glyfs*32) have been determined to be pathogenic (PMID: 10094189; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 21910976). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr558*) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 186 amino acid(s) of the NAGLU protein.

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