ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.681-5T>C

gnomAD frequency: 0.00002  dbSNP: rs778405436
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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 RCV001934776 SCV002127739 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-08-09 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the ALG6 gene. It does not directly change the encoded amino acid sequence of the ALG6 protein. This variant is present in population databases (rs778405436, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1363151). 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.
Fulgent Genetics, Fulgent Genetics RCV001934776 SCV002785562 uncertain significance ALG6-congenital disorder of glycosylation 1C 2021-07-06 criteria provided, single submitter clinical testing

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