ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)

dbSNP: rs2143075470
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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 RCV001390490 SCV001592230 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2020-02-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). This variant has not been reported in the literature in individuals with NAGLU-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asp24Glyfs*162) in the NAGLU gene. It is expected to result in an absent or disrupted protein product.

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