ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.3430G>A (p.Gly1144Arg)

dbSNP: rs747051315
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003721677 SCV004507584 uncertain significance not provided 2024-02-10 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 1144 of the KMT2E protein (p.Gly1144Arg). This variant is present in population databases (rs747051315, gnomAD 0.006%). This missense change has been observed in individual(s) with KMT2E-related conditions (PMID: 33004838). 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 KMT2E protein function with a negative predictive value of 80%. 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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