ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10863G>C (p.Gln3621His)

gnomAD frequency: 0.00002  dbSNP: rs781816624
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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 RCV001300889 SCV001490040 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 3621 of the KMT2A protein (p.Gln3621His). This variant is present in population databases (rs781816624, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with KMT2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1004214). 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 KMT2A 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.
CeGaT Center for Human Genetics Tuebingen RCV001300889 SCV002821668 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing KMT2A: BP4

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