ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1326+6T>A

gnomAD frequency: 0.00001  dbSNP: rs765364882
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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 RCV001910406 SCV002191244 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-01-21 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the ALG6 gene. It does not directly change the encoded amino acid sequence of the ALG6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs765364882, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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