ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn)

dbSNP: rs201511311
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Total submissions: 2
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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 RCV000608521 SCV000713271 uncertain significance not specified 2017-05-31 criteria provided, single submitter clinical testing The p.Thr3186Asn variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 1/152 24 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs201511311). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogeni c role. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr3186Asn variant is uncertain.
Invitae RCV003767456 SCV004620158 likely benign not provided 2023-11-13 criteria provided, single submitter clinical testing

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