ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)

dbSNP: rs587783657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146049 SCV000193204 pathogenic Bilateral frontoparietal polymicrogyria 2014-02-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000146049 SCV001443038 likely pathogenic Bilateral frontoparietal polymicrogyria 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1_Strong,PM2,PM3_Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV001857509 SCV002272717 likely pathogenic not provided 2021-06-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with polymicrogyria (PMID: 28097321). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 158627). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp657*) in the ADGRG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the ADGRG1 protein.

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