ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.838A>T (p.Ile280Leu)

gnomAD frequency: 0.00001  dbSNP: rs772896545
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Total submissions: 1
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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 RCV000601945 SCV000731787 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing p.Ile280Leu in exon 7 of GPR98: This variant is not expected to have clinical si gnificance because the isoleucine (Ile) at position 280 is not conserved through species, with >10 mammals having a leucine (Leu) at this position. This varian t has also been identified in 2/33580 Latino chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs772896545).

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