ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)

dbSNP: rs1567890328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768167 SCV004581553 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-12-23 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Sanfilippo syndrome (PMID: 32447333). This sequence change creates a premature translational stop signal (p.Trp103*) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 590818). For these reasons, this variant has been classified as Pathogenic.
SingHealth Duke-NUS Institute of Precision Medicine RCV000721982 SCV000853136 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-06-07 no assertion criteria provided curation

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