ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) (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,Partners HealthCare Personalized Medicine RCV000600025 SCV000711056 uncertain significance not specified 2017-12-05 criteria provided, single submitter clinical testing The p.Val4907Phe variant in ADGRV1 has not been previously reported in individua ls with hearing loss or Usher syndrome, but it has been identified in 8/111562 E uropean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs373391623). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic r ole. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. In summary, the clinical significance of the p.V al4907Phe variant is uncertain. ACMG/AMP Criteria applied: 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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