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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