ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12197_12209delinsTGGGA (p.Gly4066fs) (rs1554107590)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599357 SCV000710713 pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing The c.12197_12209del13insTGGGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant causes a frameshift starting with codon Glycine 4066, changes this amino acid to a Valine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Gly4066ValfsX5. 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 in large population cohorts (Lek et al., 2016). In summary, we consider the variant to be pathogenic.

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