ClinVar Miner

Submissions for variant NM_024528.4(NKAP):c.250C>T (p.Pro84Ser)

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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 RCV004577083 SCV005060889 uncertain significance Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type criteria provided, single submitter clinical testing The observed missense c.250C>T(p.Pro84Ser) variant in NKAP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Pro at position 84 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Pro84Ser in NKAP is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted as damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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