ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) (rs746867724)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201636 SCV000256421 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
Invitae RCV000201636 SCV001399031 uncertain significance Joubert syndrome 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 526 of the INPP5E protein (p.Pro526Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs746867724, ExAC 0.006%). This variant has been observed in an individual affected with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217660). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C3). 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. 5
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376305 SCV001573399 uncertain significance Rod-cone dystrophy 2021-04-08 criteria provided, single submitter research The INPP5E c.1577C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM1, PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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