ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8875C>T (p.Arg2959Ter)

gnomAD frequency: 0.00001  dbSNP: rs768035707
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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 RCV001956515 SCV002247465 pathogenic not provided 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2959*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with deafness (PMID: 27068579). ClinVar contains an entry for this variant (Variation ID: 1458724). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005032021 SCV005666298 pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2024-04-24 criteria provided, single submitter clinical testing

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