ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)

dbSNP: rs782023699
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817581 SCV000958150 uncertain significance ALG9 congenital disorder of glycosylation 2022-05-24 criteria provided, single submitter clinical testing 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: 660397). This variant has not been reported in the literature in individuals affected with ALG9-related conditions. This variant is present in population databases (rs782023699, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 467 of the ALG9 protein (p.Glu467Lys).

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