ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg)

dbSNP: rs1942591901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003588730 SCV004249531 uncertain significance Kabuki syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 5182 of the KMT2D protein (p.Gly5182Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 981766). 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 not expected to disrupt KMT2D protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Autoinflammatory diseases unit, CHU de Montpellier RCV001261317 SCV001438201 likely pathogenic Kabuki syndrome 1 2017-04-07 no assertion criteria provided clinical testing

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