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
Invitae RCV001382879 SCV001581834 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2020-06-30 criteria provided, single submitter clinical testing 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. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). 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.Glu123*) in the NAGLU gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000186583 SCV000240159 uncertain significance not provided 2015-06-01 no assertion criteria provided literature only

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