ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)

gnomAD frequency: 0.00003  dbSNP: rs376039938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224025 SCV001396200 pathogenic DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2023-06-30 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 DPAGT1 function (PMID: 30388443). 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 not expected to disrupt DPAGT1 protein function. ClinVar contains an entry for this variant (Variation ID: 36919). This missense change has been observed in individual(s) with clinical features of congenital myasthenic syndrome and/or a congenital disorder of glycosylation (PMID: 22742743, 31153949; Invitae). 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 (rs376039938, gnomAD 0.004%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 108 of the DPAGT1 protein (p.Met108Ile).
Revvity Omics, Revvity RCV003144114 SCV003831609 likely pathogenic not provided 2022-06-10 criteria provided, single submitter clinical testing
OMIM RCV000030602 SCV000053280 pathogenic Congenital myasthenic syndrome 13 2012-07-13 no assertion criteria provided literature only

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