ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter)

gnomAD frequency: 0.00003  dbSNP: rs746618021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008648 SCV001168423 pathogenic not provided 2019-02-08 criteria provided, single submitter clinical testing The S955X nonsense variant has been reported previously in association with Usher syndrome and hearing loss (Besnard et al., 2014; Sommen et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret this variant as pathogenic.
Invitae RCV001008648 SCV001380062 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser955*) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). This variant is present in population databases (rs746618021, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Usher syndrome or nonsyndromic hearing loss (PMID: 24498627, 27068579). ClinVar contains an entry for this variant (Variation ID: 817512). For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324548 SCV004030359 pathogenic Usher syndrome 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001008648 SCV001959464 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001008648 SCV001974678 pathogenic not provided no assertion criteria provided clinical testing

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