ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) (rs569519789)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592453 SCV000702005 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV000652882 SCV000774754 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 496 of the NAGLU protein (p.Leu496Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs569519789, ExAC 0.02%). This variant has not been reported in the literature in individuals with NAGLU-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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