ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3841G>A (p.Val1281Ile)

dbSNP: rs1294773650
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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 RCV000601811 SCV000731509 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing The p.Val1281Ile variant in GPR98 has not been previously reported in individual s with hearing loss. This variant has been identified in 1/111606 European chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org). Although this variant has been seen in the general population, its freque ncy is not high enough to rule out a pathogenic role. Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, the clinical significance of the p.Val1281Ile variant is uncertain.

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