ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)

dbSNP: rs1588618702
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822243 SCV000963036 uncertain significance ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2022-03-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 344 of the ALG2 protein (p.Val344Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 664201). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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