ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys)

gnomAD frequency: 0.00001  dbSNP: rs867450807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418704 SCV000524764 likely pathogenic not provided 2024-12-26 criteria provided, single submitter clinical testing Observed with a pathogenic variant on the opposite allele (in trans) in a patient with ALG8-related congenital disorder of glycosylation (CDG Ih) referred for genetic testing at GeneDx and subsequently included in the published literature (PMID: 35716054); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35716054)
Eurofins Ntd Llc (ga) RCV000418704 SCV000705914 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004155 SCV005631777 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2024-06-03 criteria provided, single submitter clinical testing

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