ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003504865 SCV004318166 pathogenic ALG6-congenital disorder of glycosylation 1C 2023-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp246*) in the ALG6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. 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.

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