ClinVar Miner

Submissions for variant NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) (rs373478202)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541544 SCV000634613 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2017-03-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 95 of the B9D1 protein (p.Phe95Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs373478202, ExAC 0.009%). This variant has been reported as homozygous in an individual affected with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217553). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
UW Hindbrain Malformation Research Program,University of Washington RCV000201768 SCV000256282 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research

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