ClinVar Miner

Submissions for variant NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)

dbSNP: rs1195336213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV002308500 SCV002600249 likely pathogenic Fleck corneal dystrophy 2022-11-03 criteria provided, single submitter clinical testing The c.904C>T;p.(Arg302*) variant creates a premature translational stop signal in the PIKFYVE gene. It is expected to result in an absent or disrupted protein product - PVS1. The variant is present at low allele frequencies population databases (rs1195336213 – gnomAD 0.00006574%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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