ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.930_931del (p.Arg311fs) (rs1569174722)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679905 SCV000807336 pathogenic ALG12-congenital disorder of glycosylation 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with a deleterious missense mutation in a fetus with cystic hygroma, VSD, diaphragmatic hernia, brain malformations, and micrognathia; a previous fetus was similarly affected (not tested).

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