Total submissions: 2
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). |
Gene |
RCV000032294 | SCV000055938 | not provided | Pseudo-Hurler polydystrophy | no assertion provided | literature only |