ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.824del (p.Gly275fs)

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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 RCV003842941 SCV004642552 pathogenic ALG8 congenital disorder of glycosylation 2023-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly275Alafs*27) in the ALG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALG8 are known to be pathogenic (PMID: 19862844). This variant is present in population databases (rs745894763, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALG8-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005003735 SCV005631794 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2023-12-21 criteria provided, single submitter clinical testing

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