ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.429G>A (p.Trp143Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389379 SCV004101526 likely pathogenic Bilateral frontoparietal polymicrogyria criteria provided, single submitter clinical testing The stop gained variant c.429G>A (p.Trp143Ter) in ADGRG1 has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.429G>A variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.0008% is reported in gnomAD. The nucleotide change c.429G>A in ADGRG1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic .

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