ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) (rs752179149)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414704 SCV000490542 pathogenic not provided 2015-07-16 criteria provided, single submitter clinical testing The c.956dupA variant in the GPR98 gene has not been reported as a pathogenic variant or as a benign polymorphism, to our knowledge. The duplication causes a frameshift starting with codon Asparagine 319, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Asn319LysfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.956dupA variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret c.956dupA to be a pathogenic variant.
Blueprint Genetics RCV001074761 SCV001240356 pathogenic Retinal dystrophy 2019-05-27 criteria provided, single submitter clinical testing
Invitae RCV000414704 SCV001416907 pathogenic not provided 2019-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn319Lysfs*6) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in several individuals affected with Usher syndrome (PMID: 25412400, 26969326). ClinVar contains an entry for this variant (Variation ID: 372373). Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658). For these reasons, this variant has been classified as Pathogenic.

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