ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter)

dbSNP: rs786204777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000169661 SCV000221189 pathogenic Bilateral frontoparietal polymicrogyria 2014-04-17 criteria provided, single submitter clinical testing The p.Gln4X variant in GPR56 has not been reported in individuals with disease or in large population studies. This nonsense variant leads to a premature termination codon at position 4, which is predicted to lead to a truncated or absent protein. Loss-of-function variants in the GPR56 gene have been associated with bilateral frontoparietal polymicrogyria (Piao 2004). In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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