ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) (rs1230894568)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693826 SCV000822245 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2018-07-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 658 of the NAGLU protein (p.Tyr658Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. 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 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"). A different missense substitution at this codon (p.Tyr658Phe) has been reported in an individual affected with mucopolysaccharidosis, type IIIB (PMID: 11286389). 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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