ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)

gnomAD frequency: 0.00002  dbSNP: rs774242915
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670853 SCV000795765 uncertain significance ALG6-congenital disorder of glycosylation 1C 2017-11-22 criteria provided, single submitter clinical testing
Invitae RCV000670853 SCV002225139 pathogenic ALG6-congenital disorder of glycosylation 1C 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro463Serfs*27) in the ALG6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the ALG6 protein. This variant is present in population databases (rs774242915, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. ClinVar contains an entry for this variant (Variation ID: 555103). This variant disrupts a region of the ALG6 protein in which other variant(s) (p.Ser478Pro) have been determined to be pathogenic (PMID: 10914684). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000670853 SCV004199152 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2023-09-21 criteria provided, single submitter clinical testing

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