ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)

gnomAD frequency: 0.00004  dbSNP: rs780107088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498030 SCV000589870 likely pathogenic not provided 2025-02-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV000801713 SCV000941505 pathogenic ALG1-congenital disorder of glycosylation 2024-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln102*) in the ALG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALG1 are known to be pathogenic (PMID: 20679665, 23806237). This variant is present in population databases (rs780107088, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ALG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 432180). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000801713 SCV005646960 likely pathogenic ALG1-congenital disorder of glycosylation 2024-02-08 criteria provided, single submitter clinical testing

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