ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) (rs1583187059)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004929 SCV001164446 uncertain significance Joubert syndrome 3 2018-12-03 criteria provided, single submitter research The homozygous p.Leu858Pro variant in AHI1 was identified by our study in one individual with Joubert syndrome. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, this clinical significance of the p.Leu858Pro variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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