ClinVar Miner

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

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Total submissions: 1
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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.

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