ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16989A>T (p.Gln5663His)

dbSNP: rs1765372607
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Total submissions: 1
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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 RCV001195359 SCV001365705 uncertain significance not specified 2020-01-22 criteria provided, single submitter clinical testing The p.Gln5663His variant in ADGRV1 has not been previously reported in individuals with Usher syndrome and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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