ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)

dbSNP: rs1596252105
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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 RCV003502554 SCV004296379 pathogenic ALG1-congenital disorder of glycosylation 2023-04-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 690318). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 98 of the ALG1 protein (p.Pro98Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital disorder of glycosylation type 1K (PMID: 23806237, 26931382). 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 ALG1 protein function. For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV000851226 SCV000993478 likely pathogenic Congenital disorder of glycosylation 2017-05-25 no assertion criteria provided research

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