Submissions for variant NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) (rs1445294968)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000667938	SCV000792466	pathogenic	Mucopolysaccharidosis, MPS-III-B	2017-06-26	criteria provided, single submitter	clinical testing
Invitae	RCV001214720	SCV001386419	pathogenic	Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V	2019-05-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu120*) 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 individuals affected with mucopolysaccharidosis type III (PMID: 27590925, 19046346). ClinVar contains an entry for this variant (Variation ID: 552642). 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. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). For these reasons, this variant has been classified as Pathogenic.

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