ClinVar Miner

Submissions for variant NM_005682.7(ADGRG1):c.843_844delinsGC (p.Ser281_Gly282delinsArgArg) (rs1057517931)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412907 SCV000491096 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ADGRG1 gene. The c.843_844delCGinsGC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.843_844delCGinsGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.843_844delCGinsGC variant is caused by two nucleotide substitutions (c.843C>G and c.844 G>C) on the same allele (in cis), resulting in an in-frame deletion of a Serine and Glycine residue and the insertion of two Arginine residues, denoted p.Ser281_Gly282delinsArgArg. However, the c.843_844delCGinsGC variant alters residues that are not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000765301 SCV000896556 uncertain significance Polymicrogyria, bilateral frontoparietal; Polymicrogyria, bilateral perisylvian, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000941967 SCV001087874 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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