ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.1397T>A (p.Ile466Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV003487072 SCV004232645 uncertain significance Opsismodysplasia 2024-01-18 criteria provided, single submitter clinical testing The p.Ile466Asn variant in the INPPL1 gene was seen in homozygous state in a fetus with Opsismodysplasia. It meets the ACMG criteria PM2 and PP3, and is therefore classified as a variant of uncertain significance.

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