ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)

dbSNP: rs796052123
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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 RCV001382879 SCV001581834 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2020-06-30 criteria provided, single submitter clinical testing Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). This sequence change creates a premature translational stop signal (p.Glu123*) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. 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 variant has been observed in individual(s) with late-onset painful sensory polyneuropathy (PMID: 25818867). ClinVar contains an entry for this variant (Variation ID: 204586). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000186583 SCV000240159 uncertain significance not provided 2015-06-01 no assertion criteria provided literature only

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