ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10088_10091del (p.Val3363fs)

dbSNP: rs1292664749
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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 RCV001075072 SCV001240683 pathogenic Retinal dystrophy 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV001862841 SCV002244742 pathogenic not provided 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val3363Aspfs*11) 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 0.004%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 19357117). This variant is also known as c.10085_10088delAAGT. ClinVar contains an entry for this variant (Variation ID: 866776). For these reasons, this variant has been classified as Pathogenic.

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