ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1127+4A>G

dbSNP: rs2100440455
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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 RCV002027889 SCV002314949 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-06-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1521466). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 13 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.

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