ClinVar Miner

Submissions for variant NM_015040.4(PIKFYVE):c.4142+1del

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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 RCV004771742 SCV005382461 likely pathogenic Fleck corneal dystrophy 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift c.4142+1del variant that lies in the splice region in PIKFYVE gene has not been previously reported as pathogenic variant nor as a benign variant, to our knowledge. The c.4142+1del variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Loss of function variants in PIKFYVE gene have been previously reported to be disease causing (Kawasaki et al., 2012). Additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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