ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.761dup (p.Pro255fs)

dbSNP: rs968741434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059616 SCV001224243 pathogenic ALG8 congenital disorder of glycosylation 2019-03-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALG8 are known to be pathogenic (PMID: 19862844). This variant has not been reported in the literature in individuals with ALG8-related conditions. This sequence change creates a premature translational stop signal (p.Pro255Serfs*53) in the ALG8 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002505624 SCV002813938 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2022-03-12 criteria provided, single submitter clinical testing

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