ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.129C>T (p.Thr43=)

gnomAD frequency: 0.00008  dbSNP: rs1311317470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647913 SCV000769719 uncertain significance ALG9 congenital disorder of glycosylation 2022-10-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 538564). 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. This variant has not been reported in the literature in individuals affected with ALG9-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.04%). This sequence change affects codon 43 of the ALG9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALG9 protein.

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