ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.24_39del (p.Gly9fs)

dbSNP: rs878853119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001824132 SCV002073791 likely pathogenic Opsismodysplasia 2022-02-05 criteria provided, single submitter clinical testing The c.24_39del;p.(Gly9Trpfs*13) is a null frameshift variant (NMD) in the INPPL1 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. This variant is not present in population databases (rs878853119, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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