ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly)

dbSNP: rs1942604482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005094245 SCV005836352 pathogenic Kabuki syndrome 2024-06-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 5117 of the KMT2D protein (p.Cys5117Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Kabuki syndrome (PMID: 27302555, 35904121; Invitae). ClinVar contains an entry for this variant (Variation ID: 981668). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KMT2D protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Autoinflammatory diseases unit, CHU de Montpellier RCV001261208 SCV001438149 pathogenic Kabuki syndrome 1 2014-04-28 no assertion criteria provided clinical testing

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