ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)

dbSNP: rs281864973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001852648 SCV002243338 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GNPTAB function (PMID: 25505245, 25788519). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GNPTAB protein function. ClinVar contains an entry for this variant (Variation ID: 39026). This missense change has been observed in individual(s) with clinical features of mucolipdosis III alpha/beta (PMID: 19659762, 23566849, 28649523). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs281864973, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 403 of the GNPTAB protein (p.Ile403Thr).
Mendelics RCV002247409 SCV002516504 pathogenic Mucolipidosis type II 2022-05-04 criteria provided, single submitter clinical testing
GeneReviews RCV000032291 SCV000055935 not provided Pseudo-Hurler polydystrophy no assertion provided literature only

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