ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His)

gnomAD frequency: 0.00002  dbSNP: rs779671690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180692 SCV000233171 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195357 SCV001365703 uncertain significance not specified 2019-09-25 criteria provided, single submitter clinical testing The p.Tyr559His variant in ADGRV1 has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.01% (2/15484) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 199175). 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 this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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