ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.96dup (p.Leu33fs) (rs747322175)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778779 SCV000915149 uncertain significance Joubert syndrome 3 2019-01-10 criteria provided, single submitter clinical testing The AHI1 c.96dupA (p.Leu33ThrfsTer9) variant results in a frameshift and is predicted to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Leu33ThrfsTer9 variant is reported at a frequency of 0.000044 in the European (non-Finnish) population of the Exome Aggregation Database. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Joubert syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
GeneDx RCV001009216 SCV001169035 likely pathogenic not provided 2019-01-14 criteria provided, single submitter clinical testing The c.96dupA variant in the AHI1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.96dupA variant causes a frameshift starting with codon Leucine 33, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Leu33ThrfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.96dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.96dupA as a likely pathogenic variant.
Clinical Genetics,Academic Medical Center RCV001009216 SCV001922096 pathogenic not provided no assertion criteria provided clinical testing

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