ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10476_10479del (p.Phe3493fs)

dbSNP: rs1260874342
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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 RCV001034769 SCV001198067 pathogenic not provided 2021-05-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe3493Glyfs*6) 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, 26667666, 30029497). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 834142). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036300 SCV005672718 likely pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2024-05-21 criteria provided, single submitter clinical testing

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