ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378698 SCV001576324 likely pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-06-03 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 361 of the NAGLU protein (p.Trp361Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs766000735, ExAC 0.02%). This variant has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 23380547, 30070758). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect NAGLU protein function (PMID: 29979746). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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