ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13174C>T (p.Pro4392Ser)

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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 RCV004547262 SCV005042673 uncertain significance Kleefstra syndrome 2 criteria provided, single submitter clinical testing The missense c.13174C>Tp.Pro4392Ser variant in KMT2C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro4392Ser 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.Pro4392Ser in KMT2C is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 4392 is changed to a Ser 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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