ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)

dbSNP: rs2108440795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001543405 SCV004513351 uncertain significance ALG3-congenital disorder of glycosylation 2023-02-14 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. 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 ALG3 protein function. ClinVar contains an entry for this variant (Variation ID: 1184847). This missense change has been observed in individual(s) with congenital disorder of glycosylation type 1 (PMID: 33583022). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 250 of the ALG3 protein (p.Leu250Gln).
University of Washington Center for Mendelian Genomics, University of Washington RCV001543405 SCV001761963 pathogenic ALG3-congenital disorder of glycosylation no assertion criteria provided research

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