ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14973-2A>G (rs371981035)

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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, Partners HealthCare Personalized Medicine RCV000039531 SCV000063220 pathogenic Rare genetic deafness 2012-04-24 criteria provided, single submitter clinical testing The 14973-2A>G variant in GPR98 has not been reported in the literature nor prev iously identified by our laboratory. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered sp licing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Invitae RCV001041197 SCV001204799 likely pathogenic not provided 2019-11-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 73 of the ADGRV1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs371981035, ExAC 0.03%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 46275). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Blueprint Genetics RCV001073981 SCV001239547 likely pathogenic Retinal dystrophy 2018-09-04 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002859 SCV001160886 pathogenic Usher syndrome type 2 2019-06-23 no assertion criteria provided research

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