ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) (rs1307312865)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627429 SCV000748428 pathogenic not provided 2018-04-17 criteria provided, single submitter clinical testing The c.10736_10737delCC variant in the ADGRV1 gene has been reported previously in association with autosomal recessive Usher syndrome in an affected individual who harbored an additional loss-of-function variant in the ADGRV1 gene (Le Quesne et al., 2012; referenced as the GPR98 gene). The c.10736_10737delCC variant causes a frameshift starting with codon Alanine 3579, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Ala3579ValfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.10736_10737delCC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.10736_10737delCC as a pathogenic variant.
Blueprint Genetics RCV001073723 SCV001239282 likely pathogenic Retinal dystrophy 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000627429 SCV001399268 pathogenic not provided 2019-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala3579Valfs*7) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another ADGRV1 variant in an individual affected with Usher syndrome type 2 (PMID: 22135276). This variant is also known as GPR98, c.10736_37delCC, p.Ala3579ValfsX6 in the literature. ClinVar contains an entry for this variant (Variation ID: 523945). 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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