ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)

gnomAD frequency: 0.00001  dbSNP: rs757936530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388749 SCV004100510 uncertain significance Joubert syndrome 1 criteria provided, single submitter clinical testing The missense variant p.G286R in INPP5E (NM_019892.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G286R variant is observed in 1/30,244 (0.0033%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes.The p.G286R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glycine residue at codon 286 of INPP5E is conserved in all mammalian species. The nucleotide c.856 in INPP5E is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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