ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1167del (p.Ser390fs)

dbSNP: rs769698652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667344 SCV000791777 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000667344 SCV003320608 pathogenic ALG6-congenital disorder of glycosylation 1C 2023-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser390Leufs*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). This variant is present in population databases (rs769698652, gnomAD 0.002%). 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: 552130). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000667344 SCV004197333 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2023-05-16 criteria provided, single submitter clinical testing

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