ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)

gnomAD frequency: 0.00003  dbSNP: rs764987437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724777 SCV000230726 uncertain significance not provided 2015-04-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000178611 SCV000731500 likely benign not specified 2017-03-26 criteria provided, single submitter clinical testing p.Val3258Ile in exon 46 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 32 mammal species have an isoleucine (Ile) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do n ot suggest a high likelihood of impact to the protein. It has also been identifi ed in in 2/66706 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs764987437).
Labcorp Genetics (formerly Invitae), Labcorp RCV000724777 SCV004643416 likely benign not provided 2023-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000724777 SCV005396788 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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