ClinVar Miner

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

dbSNP: rs780528545
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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 RCV001906618 SCV002168910 pathogenic ALG6-congenital disorder of glycosylation 1C 2021-10-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. 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 premature translational stop signal has been observed in individual(s) with congenital disorder of glycosylation (PMID: 15771971). For these reasons, this variant has been classified as Pathogenic.

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