ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)

dbSNP: rs1553153399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670804 SCV000795703 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV000670804 SCV002169525 pathogenic ALG6-congenital disorder of glycosylation 1C 2023-01-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALG6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu23Argfs*3) in the ALG6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). ClinVar contains an entry for this variant (Variation ID: 555062). For these reasons, this variant has been classified as Pathogenic.

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