ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7954A>G (p.Lys2652Glu)

dbSNP: rs1747265965
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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 RCV001195360 SCV001365706 uncertain significance not specified 2020-04-16 criteria provided, single submitter clinical testing The p.Lys2652Glu 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 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.

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