ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2284C>T (p.Arg762Cys)

gnomAD frequency: 0.00005  dbSNP: rs41302842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000616899 SCV000711995 likely benign not specified 2016-05-21 criteria provided, single submitter clinical testing p.Arg762Cys in exon 12 of GPR98: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, >20 species (including >5 mammals) have a cysteine (Cys) at this position despite high nearby amino acid conservation. In addition, computational predicti on tools do not suggest a high likelihood of impact to the protein. It has been identified in 29/16504 (0.2%) of South Asian chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41302842).
Invitae RCV001448513 SCV001651608 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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