ClinVar Miner

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

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Total submissions: 1
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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.

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