ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.6172C>G (p.Leu2058Val) (rs576883816)

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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 RCV000785934 SCV000924514 uncertain significance Joubert syndrome 17 2018-06-15 criteria provided, single submitter research The heterozygous p.Leu2058Val variant was identified by our study in the compound heterozygous state, with another VUS, in one individual with Joubert syndrome. This variant was absent from large population studies. The Leucine (Leu) at position 2058 is not highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools do not suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain.

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