ClinVar Miner

Submissions for variant NM_005682.7(ADGRG1):c.1426C>T (p.Arg476Ter) (rs587783652)

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Total submissions: 4
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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 Polymicrogyria, bilateral frontoparietal 2013-05-16 criteria provided, single submitter clinical testing
Courtagen Diagnostics Laboratory,Courtagen Life Sciences RCV000146038 SCV000236528 pathogenic Polymicrogyria, bilateral frontoparietal 2015-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762976 SCV000893420 pathogenic Polymicrogyria, bilateral frontoparietal; Polymicrogyria, bilateral perisylvian, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000806491 SCV000946495 pathogenic not provided 2018-10-20 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with bilateral frontoparietal polymicrogyria (PMID: 25922261). This variant has also been observed to segregate in an autosomal recessive fashion in a family with clinical features of bilateral frontoparietal polymicrogyria (PMID: 29707406). ClinVar contains an entry for this variant (Variation ID: 158618). Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). For these reasons, this variant has been classified as Pathogenic.

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