ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)

dbSNP: rs1185617030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073400 SCV001238941 likely pathogenic Retinal dystrophy 2019-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001231169 SCV001403680 pathogenic not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr759*) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 26969326). ClinVar contains an entry for this variant (Variation ID: 865856). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047289 SCV005666277 pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2024-01-19 criteria provided, single submitter clinical testing

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