ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)

dbSNP: rs1758488956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073869 SCV001239433 likely pathogenic Retinal dystrophy 2018-07-24 criteria provided, single submitter clinical testing
Invitae RCV001216853 SCV001388670 pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser4233Lysfs*4) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 866110). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509612 SCV002819868 likely pathogenic Usher syndrome 2022-12-04 criteria provided, single submitter clinical testing Variant summary: ADGRV1 c.12697dupA (p.Ser4233LysfsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 247682 control chromosomes. c.12697dupA has been reported in the literature as a homozygous genotype in at-least one individual affected with Inherited Retinal Disease (IRD) (example, Zampaglione_2020). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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