ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)

gnomAD frequency: 0.00001  dbSNP: rs863225142
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201760 SCV000256268 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research
Institute of Human Genetics, University Hospital Muenster RCV002287391 SCV002577938 pathogenic See cases 2021-12-20 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330575 SCV004037959 pathogenic Joubert syndrome and related disorders 2023-08-17 criteria provided, single submitter clinical testing Variant summary: AHI1 c.736A>T (p.Lys246X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 6.3e-06 in 159114 control chromosomes (gnomAD). c.736A>T has been reported in the literature in at-least one individual affected with Joubert Syndrome And Related Disorders (example: Fleming_2017). The following publication has been ascertained in the context of this evaluation (PMID: 29146704). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000201760 SCV005666354 pathogenic Joubert syndrome 3 2024-03-07 criteria provided, single submitter clinical testing

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