ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.680+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1253289234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002036207 SCV002315862 pathogenic ALG6-congenital disorder of glycosylation 1C 2023-12-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the ALG6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). This variant is present in population databases (no rsID available, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with congenital disorder of glycosylation (PMID: 16007612). ClinVar contains an entry for this variant (Variation ID: 1522702). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002036207 SCV004199174 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2023-08-30 criteria provided, single submitter clinical testing

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