ClinVar Miner

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

dbSNP: rs780528545
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673084 SCV000798252 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV000673084 SCV000946583 pathogenic ALG6-congenital disorder of glycosylation 1C 2023-11-03 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. Loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). This variant is present in population databases (rs780528545, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with a congenital disorder of glycosylation (PMID: 15771971). ClinVar contains an entry for this variant (Variation ID: 557002). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002462010 SCV002756481 likely pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing Observed with a pathogenic variant in unknown phase in three individuals within the same family with a congenital disorder of glycosylation (Vuillaumier-Barrot et al., 2005); 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); This variant is associated with the following publications: (PMID: 25525159, 19862844, 15771971)
Baylor Genetics RCV000673084 SCV004197433 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2022-12-27 criteria provided, single submitter clinical testing

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