ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys)

gnomAD frequency: 0.00001  dbSNP: rs762372103
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891611 SCV002164022 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 377 of the NAGLU protein (p.Arg377Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs762372103, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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