ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.316A>G (p.Ile106Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133947 SCV003812676 uncertain significance O'Donnell-Luria-Rodan syndrome 2021-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005099307 SCV005805678 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 106 of the KMT2E protein (p.Ile106Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KMT2E-related conditions. ClinVar contains an entry for this variant (Variation ID: 2433251). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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