ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)

gnomAD frequency: 0.00001  dbSNP: rs759636698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666285 SCV000790551 uncertain significance ALG6-congenital disorder of glycosylation 1C 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000666285 SCV002225376 uncertain significance ALG6-congenital disorder of glycosylation 1C 2023-10-03 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ALG6 mRNA. It is expected to extend the length of the ALG6 protein by 9 additional amino acid residues. This variant is present in population databases (rs759636698, gnomAD 0.01%). 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: 551272). 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 RCV000666285 SCV002783486 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-04-02 criteria provided, single submitter clinical testing

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