ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.3461C>G (p.Pro1154Arg)

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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 RCV004547218 SCV005042587 uncertain significance Opsismodysplasia criteria provided, single submitter clinical testing The missense c.3461C>G p.Pro1154Arg variant in INPPL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro1154Arg variant has allele frequency 0.0008% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Pro1154Arg in INPPL1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 1154 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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