ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys)

gnomAD frequency: 0.00001  dbSNP: rs778879752
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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 RCV000216359 SCV000271821 uncertain significance not specified 2015-01-29 criteria provided, single submitter clinical testing The p.Tyr2583Cys variant in GPR98 has not been previously reported in individual s with hearing loss. This variant has been identified in 2/8738 of East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). Although this variant has been seen in the general population, its frequ ency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that the Tyr2583Cys variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the Tyr2583Cys variant is un certain.
Invitae RCV001070126 SCV001235339 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing

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