ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys)

gnomAD frequency: 0.00001  dbSNP: rs764685377
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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 RCV000602861 SCV000711042 uncertain significance not specified 2018-01-30 criteria provided, single submitter clinical testing The p.Gln1315Lys variant in ADGRV1 has not been previously reported in individua ls with hearing loss or Usher syndrome, but was identified in 1/15284 African ch romosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu te.org; dbSNP rs764685377). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Comp utational prediction tools and conservation analyses do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the p.Gln1315Lys variant is uncertain. ACMG/AMP Criteria applied: PM2.
Invitae RCV001854133 SCV002140720 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing

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