ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) (rs138387856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668270 SCV000792843 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-07-18 criteria provided, single submitter clinical testing
Invitae RCV001206756 SCV001378080 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-06-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NAGLU gene (p.Arg464*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 280 amino acids of the NAGLU protein. This variant is present in population databases (rs138387856, ExAC 0.002%). This variant has not been reported in the literature in individuals with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 552920). 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. This variant disrupts the C-terminus of the NAGLU protein. Other variant(s) that disrupt this region (p.Arg626*) have been determined to be pathogenic (PMID: 9832037, 8650226, 10094189). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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