ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)

gnomAD frequency: 0.00016  dbSNP: rs200179979
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Total submissions: 3
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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 RCV000039644 SCV000063333 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing p.Pro2799Leu in exon 37 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across mammals and computational anal yses do not suggest a high likelihood of impact to the protein. It has been id entified in 21/66654 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200179979).
Invitae RCV001362654 SCV001558684 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001362654 SCV002013646 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing Identified by exome sequencing in a patient in the published literature (Li et al., 2021) with presumed ocular histoplasmosis syndrome, but it was not reported if the patient had other variants identified that could be associated with the phenotype; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32707200)

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