ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.723del (p.Phe242fs)

dbSNP: rs755112036
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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 RCV001918753 SCV002186265 pathogenic ALG6-congenital disorder of glycosylation 1C 2021-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe242Serfs*19) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with ALG6-related conditions. For these reasons, this variant has been classified as Pathogenic.

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