ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.620+1G>A

gnomAD frequency: 0.00001  dbSNP: rs587783660
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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 RCV000146056 SCV000193211 pathogenic Bilateral frontoparietal polymicrogyria 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669107 SCV004393464 likely pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the ADGRG1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). This variant is present in population databases (rs587783660, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 158634). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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