ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.82+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002994029 SCV003296945 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2022-12-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ALG6-related conditions. This variant is present in population databases (rs771618945, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 2 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).
Baylor Genetics RCV002994029 SCV004199107 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2023-10-14 criteria provided, single submitter clinical testing

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