ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe)

dbSNP: rs373391623
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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 RCV000600025 SCV000711056 uncertain significance not specified 2020-06-08 criteria provided, single submitter clinical testing The p.Val4907Phe variant in ADGRV1 has not been previously reported in individuals with hearing loss or Usher syndrome, but it has been identified in 0.007% (8/112882) European chromosomes by gnomAD (http://gnomad.broadinstitute.org). It has been reported in ClinVar (Variation ID 504584). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Val4907Phe variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.
Fulgent Genetics, Fulgent Genetics RCV000765857 SCV000897253 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing

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