ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.-11G>A

dbSNP: rs727504484
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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 RCV000155612 SCV000205320 uncertain significance not specified 2013-04-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The -11G>A variant in GPR98 has not been reported in individuals affected with hearing loss or in l arge population studies. This variant is located in the 5'UTR. Although we cann ot rule out a deleterious impact on the regulation of splicing or translation of GPR98, to date no disease-causing variants have been found in this region of th e transcript. Furthermore, the nucleotide at this position is not highly conserv ed across species suggesting that a change may be tolerated. In summary, the cl inical significance of this variant cannot be determined with certainty at this time; however based upon the available data, we would lean towards a more likely benign role.

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