ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13072C>T (p.Leu4358Phe)

dbSNP: rs1554113480
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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 RCV000614255 SCV000712026 uncertain significance not specified 2016-06-28 criteria provided, single submitter clinical testing The p.Leu4358Phe variant in GPR98 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analyses suggest that the p.Leu4358Phe variant may impact the protein, though this information is not predictive enough to det ermine pathogenicity. In summary, the clinical significance of the p.Leu4358Phe variant is uncertain.

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