ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241282 SCV001414291 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-10-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NAGLU gene (p.Tyr735*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acids of the NAGLU protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NAGLU-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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