ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)

gnomAD frequency: 0.00002  dbSNP: rs747622607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598600 SCV000709938 pathogenic not provided 2018-02-09 criteria provided, single submitter clinical testing The R5688X nonsense variant in the GPR98 gene has been reported previously in association with Usher syndrome type 2 (Besnard et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, we consider the variant to be pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000763551 SCV000894368 pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000598600 SCV002247358 pathogenic not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg5688*) 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 Usher syndrome type 2C (PMID: 22147658, 31046701). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 503694). For these reasons, this variant has been classified as Pathogenic.

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