ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.964A>G (p.Ile322Val)

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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 RCV004555780 SCV005044758 uncertain significance Syndromic X-linked intellectual disability Claes-Jensen type criteria provided, single submitter clinical testing The missense c.964A>G p.Ile322Val variant in KDM5C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ile322Val variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Ile322Val in KDM5C is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ile at position 322 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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