ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.981dup (p.Val328fs)

gnomAD frequency: 0.00001  dbSNP: rs777686455
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229117 SCV001401554 pathogenic ALG8 congenital disorder of glycosylation 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 956334). This variant has not been reported in the literature in individuals affected with ALG8-related conditions. This variant is present in population databases (rs777686455, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Val328Serfs*28) 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).
Fulgent Genetics, Fulgent Genetics RCV002497778 SCV002810047 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2022-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538480 SCV004105966 likely pathogenic ALG8-related disorder 2023-07-19 criteria provided, single submitter clinical testing The ALG8 c.981dupA variant is predicted to result in a frameshift and premature protein termination (p.Val328Serfs*28). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-77820544-C-CT). Frameshift variants in ALG8 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV003448985 SCV003934878 pathogenic Autosomal dominant polycystic liver disease 2021-06-08 no assertion criteria provided research

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