ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10619C>G (p.Ser3540Cys)

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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 RCV004785918 SCV005401046 uncertain significance Kleefstra syndrome 2 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.10619C>G(p.Ser3540Cys) variant in KMT2C gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Ser3540Cys variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Polymorphism) predict conflicting evidence on protein structure and function for this variant. The reference amino acid change at this position on KMT2C gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 3540 is changed to a Cys 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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