ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2988del (p.Val997fs) (rs755246809)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000384106 SCV000330192 pathogenic not provided 2017-02-13 criteria provided, single submitter clinical testing The c.2988delA variant in the AHI1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2988delA variant causes a frameshift starting with codon Valine 997, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Val997SerfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2988delA variant was not observed in approximately 5900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2988delA as a pathogenic variant.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851312 SCV000993606 likely pathogenic Joubert syndrome 3 2019-01-08 criteria provided, single submitter research
Blueprint Genetics RCV001075290 SCV001240906 likely pathogenic Retinal dystrophy 2017-11-13 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504884 SCV000598927 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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