ClinVar Miner

Submissions for variant NM_015040.4(PIKFYVE):c.577A>G (p.Asn193Asp)

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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 RCV004764376 SCV005373684 uncertain significance Fleck corneal dystrophy 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.577A>G (p.Asn193Asp) in the PIKFYVE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Asn at position 193 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen, SIFT and MutationTaster) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Asn193Asp in PIKFYVE is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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