ClinVar Miner

Submissions for variant NM_019109.4(ALG1):c.304C>T (p.Gln102Ter) (rs780107088)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498030 SCV000589870 likely pathogenic not provided 2018-03-19 criteria provided, single submitter clinical testing The Q102X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, it is likely to be a pathogenic variant.
Invitae RCV000801713 SCV000941505 pathogenic Congenital disorder of glycosylation type 1K 2018-09-28 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. This variant is present in population databases (rs780107088, ExAC 0.001%). This variant has not been reported in the literature in individuals with ALG1-related disease. ClinVar contains an entry for this variant (Variation ID: 432180). Loss-of-function variants in ALG1 are known to be pathogenic (PMID: 20679665, 23806237). For these reasons, this variant has been classified as Pathogenic.

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