ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)

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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 RCV002510616 SCV002820099 uncertain significance Joubert syndrome 1 criteria provided, single submitter clinical testing The missense variant p.D470N in INPP5E (NM_019892.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D470N variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.D470N missense variant is predicted to be damaging by both SIFT and PolyPhen2. The aspartic acid residue at codon 470 of INPP5E is conserved in all mammalian species. The nucleotide c.1408 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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