ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11547_11550del (p.Ile3849fs)

dbSNP: rs1471607090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864441 SCV002134875 pathogenic not provided 2021-10-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile3849Metfs*28) 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, 26667666, 30029497, 32467589).
Fulgent Genetics, Fulgent Genetics RCV005038406 SCV005672721 likely pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2024-04-19 criteria provided, single submitter clinical testing

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