ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)

dbSNP: rs1957090242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001310078 SCV001486207 likely pathogenic ALG1-congenital disorder of glycosylation 2021-03-05 no assertion criteria provided clinical testing PM2_supporting, PP3, PM3_strong (the variant was found compound-heterozygous with p.S258L in the patient (1 point) and was found in homozygous state in two affected siblings of an unrelated family (additional 1 point), personal communication Johannes Gutenberg University, Mainz) , according to ClinGen recommendation v1.0 for PM3, PP4.

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