ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs)

dbSNP: rs778288846
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009156 SCV001168972 likely pathogenic not provided 2018-12-18 criteria provided, single submitter clinical testing The c.5967dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Valine 1990, changes this amino acid to a Serine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Val1990SerfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We consider this variant to be likely pathogenic.
Invitae RCV001009156 SCV001199946 pathogenic not provided 2021-08-27 criteria provided, single submitter clinical testing
PerkinElmer Genomics RCV001009156 SCV002024906 pathogenic not provided 2019-08-21 no assertion criteria provided clinical testing

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