ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala) (rs374609813)

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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 RCV000155101 SCV000204786 uncertain significance not specified 2014-05-29 criteria provided, single submitter clinical testing The Val754Ala variant in GPR98 has not been previously reported in individuals w ith hearing loss, but has been identified in 0.03% (2/8154) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs374609813). Although this variant has been seen in the general po pulation, its frequency is not high enough to rule out a pathogenic role. Compu tational prediction tools and conservation analyses do not provide strong suppor t for or against an impact to the protein. In summary, the clinical significance of the Val754Ala variant is uncertain.
Invitae RCV001514610 SCV001722495 benign not provided 2020-10-31 criteria provided, single submitter clinical testing

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