ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) (rs780528545)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673084 SCV000798252 likely pathogenic Congenital disorder of glycosylation type 1C 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV000673084 SCV000946583 pathogenic Congenital disorder of glycosylation type 1C 2018-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr57*) in the ALG6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780528545, ExAC 0.009%). This variant has been observed in an individual affected with a congenital disorder of glycosylation (PMID: 15771971). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). For these reasons, this variant has been classified as Pathogenic.

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