ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) (rs796052122)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423370 SCV000516177 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing The I403T missense variant in the NAGLU gene has been reported previously in association withmucopolysaccharidosis IIIB (MPS IIIB) in an individual who was also heterozygous for another variant inNAGLU (Valstar et al., 2010). The I403T variant is a non-conservative amino acid substitution, which islikely to impact secondary protein structure as these residues differ in polarity, charge, size and/or otherproperties. This substitution occurs at a position that is conserved across species and in silico analysispredicts this variant is probably damaging to the protein structure/function. Furthermore, missense variants in nearby residues (F410S,G412E) have been reported in the Human Gene Mutation Database in associationwith MPS IIIB (Stenson et al., 2014), supporting the functional importance of this region of theprotein. Therefore, we interpret I403T to be a pathogenic variant.
OMIM RCV000186582 SCV000240158 pathogenic Charcot-Marie-Tooth disease, axonal type 2V 2015-06-01 no assertion criteria provided literature only
GeneReviews RCV000186582 SCV000266395 pathogenic Charcot-Marie-Tooth disease, axonal type 2V 2016-03-24 no assertion criteria provided literature only

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