ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)

dbSNP: rs2092906625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244118 SCV001417318 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 81 of the NAGLU protein (p.Thr81Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 23840811). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001835196 SCV002093248 uncertain significance Mucopolysaccharidosis, MPS-III-B 2020-08-03 no assertion criteria provided clinical testing

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