ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter) (rs763670293)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255292 SCV000322616 pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing The R3405X pathogenic variant in the ADGRV1 gene has been reported previously in an individual with nonsyndromic hearing loss who also harbored a missense ADGRV1 variant, although the phase of these two variants was not determined as parental studies were not performed (Gu et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R3405X variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R3405X as a pathogenic variant.

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