ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.713del (p.Met238fs)

dbSNP: rs2143088088
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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 RCV001895807 SCV002153193 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-04-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met238Argfs*62) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with NAGLU-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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