ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.1216del (p.Leu406fs)

dbSNP: rs797045600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194408 SCV000247494 pathogenic Bilateral frontoparietal polymicrogyria 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001220464 SCV001392453 pathogenic not provided 2019-06-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu406Serfs*42) in the ADGRG1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). This variant has been observed in an individual affected with bilateral frontoparietal polymicrogyria (PMID: 20929962). ClinVar contains an entry for this variant (Variation ID: 211093). This variant is not present in population databases (ExAC no frequency).

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