ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr)

dbSNP: rs281864975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037653 SCV001201077 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-07-03 criteria provided, single submitter clinical testing 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. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 442 of the GNPTAB protein (p.Cys442Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with GNPTAB-related symptoms (PMID: 19634183, 34440436). ClinVar contains an entry for this variant (Variation ID: 39029). 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. Experimental studies have shown that this missense change affects GNPTAB function (PMID: 25505245).
GeneReviews RCV000032294 SCV000055938 not provided Pseudo-Hurler polydystrophy no assertion provided literature only

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