ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu)

gnomAD frequency: 0.00003  dbSNP: rs376863164
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Total submissions: 3
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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 RCV000613469 SCV000712218 uncertain significance not specified 2016-06-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Phe5483Leu va riant in GPR98 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.1% (12/8622) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs376863164). Although this variant has been seen in the general popula tion, its frequency is not high enough to rule out a pathogenic role. Computatio nal prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significanc e of the p.Phe5483Leu variant is uncertain, its frequency suggests that it is mo re likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001327498 SCV001518577 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001327498 SCV001811083 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30733538)

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