ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.5675G>A (p.Arg1892His)

dbSNP: rs1950436398
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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 RCV002019405 SCV002280702 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1892 of the KMT2A protein (p.Arg1892His). 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: 1497326). 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 expected to disrupt KMT2A protein function. 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.
Institute of Immunology and Genetics Kaiserslautern RCV004587283 SCV005077739 likely pathogenic Wiedemann-Steiner syndrome 2024-05-02 criteria provided, single submitter clinical testing ACMG Criteria: PM2, PP3, PS2; Variant was found in heterozygous state

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