ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1043T>G (p.Val348Gly)

gnomAD frequency: 0.00001  dbSNP: rs747813537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001989096 SCV002284145 uncertain significance ALG12-congenital disorder of glycosylation 2022-01-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALG12-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs747813537, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 348 of the ALG12 protein (p.Val348Gly).

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