ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)

gnomAD frequency: 0.00006  dbSNP: rs757696771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599234 SCV000709808 pathogenic not provided 2021-12-03 criteria provided, single submitter clinical testing Observed with a second ADGRV1 variant in a patient with retinal disease in published literature (Zampaglione E et al., 2020); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21569298, 31589614, 32037395)
Mendelics RCV000987544 SCV001136860 pathogenic Usher syndrome type 2C 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000599234 SCV001380629 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met5890Valfs*10) 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 (rs757696771, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 21569298). ClinVar contains an entry for this variant (Variation ID: 503620). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000987544 SCV001573666 pathogenic Usher syndrome type 2C 2021-04-08 criteria provided, single submitter research The GPR98 c.17668_17669del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP3. Based on this evidence we have classified this variant as Pathogenic.

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