ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) (rs754637179)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201594 SCV000256423 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
Invitae RCV000201594 SCV000758383 uncertain significance Joubert syndrome 2017-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 315 of the INPP5E protein (p.Pro315Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs754637179, ExAC 0.01%). This variant has been reported in an individual affected with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217662). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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