ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2557C>T (p.Pro853Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387650 SCV004099166 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing PM2, BP4, PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV003753274 SCV004449349 uncertain significance Kabuki syndrome 2023-03-31 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 853 of the KMT2D protein (p.Pro853Ser).

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