ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)

gnomAD frequency: 0.00001  dbSNP: rs1085307981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489229 SCV000577771 likely pathogenic not provided 2015-05-21 criteria provided, single submitter clinical testing The Y132C variant in the ALG3 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The Y132C variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y132C variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The Y132C variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded
University of Washington Center for Mendelian Genomics, University of Washington RCV001543412 SCV001761972 pathogenic ALG3-congenital disorder of glycosylation no assertion criteria provided research

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