ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)

gnomAD frequency: 0.00001  dbSNP: rs762643273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672513 SCV000797623 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV000672513 SCV001393441 pathogenic ALG6-congenital disorder of glycosylation 1C 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 84 of the ALG6 protein (p.Ala84Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ALG6-congenital disorder of glycosylation (PMID: 26453362, 27287710; Invitae). ClinVar contains an entry for this variant (Variation ID: 556498). 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 ALG6 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000672513 SCV001571360 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2021-04-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672513 SCV004197366 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2023-04-06 criteria provided, single submitter clinical testing

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