ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)

gnomAD frequency: 0.00001  dbSNP: rs373780305
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Total submissions: 4
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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 RCV000039562 SCV000063251 pathogenic Rare genetic deafness 2013-01-10 criteria provided, single submitter clinical testing The Arg800X variant in GPR98 has been reported in one individual with Usher synd rome who had a second GPR98 variant (Le Quesne Stabej 2012). This nonsense varia nt leads to a premature termination codon at position 800, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our crite ria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Fulgent Genetics, Fulgent Genetics RCV000763549 SCV000894366 pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001582516 SCV001810691 pathogenic not provided 2022-08-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22135276, 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV001582516 SCV002241054 pathogenic not provided 2024-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg800*) 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 (rs373780305, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 22135276). ClinVar contains an entry for this variant (Variation ID: 46306). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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