ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1425G>C (p.Gln475His)

gnomAD frequency: 0.00036  dbSNP: rs147000290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000443818 SCV000510895 uncertain significance not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001865319 SCV002139387 uncertain significance ALG12-congenital disorder of glycosylation 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 475 of the ALG12 protein (p.Gln475His). This variant is present in population databases (rs147000290, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. ClinVar contains an entry for this variant (Variation ID: 376929). 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.
Breakthrough Genomics, Breakthrough Genomics RCV000443818 SCV005194520 uncertain significance not provided criteria provided, single submitter not provided

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