ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.3757G>A (p.Ala1253Thr)

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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 RCV004577308 SCV005061271 uncertain significance Gastrointestinal defects and immunodeficiency syndrome 2 criteria provided, single submitter clinical testing The observed missense variant c.3757G>A (p.Ala1253Thr) PI4KA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala1253Thr variant is present with an allele frequency of 0.0008% in the gnomAD exomes database. This variant has not been submitted to the ClinVar database. The amino acid change p.Ala1253Thr in PI4KA is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ala at position 1253 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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