ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)

dbSNP: rs112543062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000449633 SCV000537763 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2016-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000449633 SCV003786578 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-06-01 criteria provided, single submitter clinical testing This missense change has been observed in individuals with mucolipidosis type II (PMID: 32651481). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 193739). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 382 of the GNPTAB protein (p.Thr382Pro).
Eurofins Ntd Llc (ga) RCV000173897 SCV000225070 uncertain significance not provided 2014-12-30 flagged submission clinical testing

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