ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073869 SCV001239433 likely pathogenic Retinal dystrophy 2018-07-24 criteria provided, single submitter clinical testing
Invitae RCV001216853 SCV001388670 pathogenic not provided 2019-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser4233Lysfs*4) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658). For these reasons, this variant has been classified as Pathogenic.

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