ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.622A>T (p.Arg208Ter)

gnomAD frequency: 0.00001  dbSNP: rs1464756874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778668 SCV000915001 uncertain significance ALG12-congenital disorder of glycosylation 2018-11-06 criteria provided, single submitter clinical testing The ALG12 c.622A>T (p.Arg208Ter) variant is a stop-gained variant that is predicted to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database in a region of good sequencing coverage. It is therefore presumed to be rare. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg208Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital disorders of glycosylation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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