ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9907-1G>A

gnomAD frequency: 0.00001  dbSNP: rs769286352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075697 SCV001241325 likely pathogenic Retinal dystrophy 2019-04-05 criteria provided, single submitter clinical testing
GeneDx RCV001572562 SCV001797224 likely pathogenic not provided 2019-04-24 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002505667 SCV002811671 likely pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2022-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001572562 SCV003305438 pathogenic not provided 2023-04-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs769286352, gnomAD 0.001%). This sequence change affects an acceptor splice site in intron 46 of the ADGRV1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). Disruption of this splice site has been observed in individuals with clinical features of Usher syndrome and/or deafness (Invitae). ClinVar contains an entry for this variant (Variation ID: 867137). 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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