ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu)

gnomAD frequency: 0.00021  dbSNP: rs186975400
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Total submissions: 3
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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 RCV000604616 SCV000731959 uncertain significance not specified 2017-09-28 criteria provided, single submitter clinical testing The p.Phe3018Leu variant in ADGRV1 has not been previously reported in individua ls with hearing loss or Usher syndrome, but has been identified in 0.1% (16/1770 6) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gno mad.broadinstitute.org; dbSNP rs186975400). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathog enic role. Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Phe3018Leu variant is uncertain. ACMG/AMP Criteria app lied: none (Richards 2015).
Labcorp Genetics (formerly Invitae), Labcorp RCV001227016 SCV001399351 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001227016 SCV002526500 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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