ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) (rs764987437)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724777 SCV000230726 uncertain significance not provided 2015-04-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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,; dbSNP rs764987437).

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