ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)

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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 RCV003607847 SCV004407649 uncertain significance ALG12-congenital disorder of glycosylation 2023-08-25 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with ALG12-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 444 of the ALG12 protein (p.Tyr444His).

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