ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)

gnomAD frequency: 0.00002  dbSNP: rs587783652
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146038 SCV000193193 pathogenic Bilateral frontoparietal polymicrogyria 2013-05-16 criteria provided, single submitter clinical testing
Courtagen Diagnostics Laboratory, Courtagen Life Sciences RCV000146038 SCV000236528 pathogenic Bilateral frontoparietal polymicrogyria 2015-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000762976 SCV000893420 pathogenic Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806491 SCV000946495 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg476*) in the ADGRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). This variant is present in population databases (rs587783652, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of bilateral frontoparietal polymicrogyria and bilateral frontoparietal polymicrogyria (PMID: 25922261, 29707406). ClinVar contains an entry for this variant (Variation ID: 158618). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000806491 SCV003816641 pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000146038 SCV001452611 pathogenic Bilateral frontoparietal polymicrogyria 2020-09-16 no assertion criteria provided clinical testing

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