ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002854056 SCV003616891 likely benign Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003730290 SCV004536271 uncertain significance not provided 2023-08-30 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 KMT2A protein function. ClinVar contains an entry for this variant (Variation ID: 2289986). This variant has not been reported in the literature in individuals affected with KMT2A-related conditions. This variant is present in population databases (rs782707495, gnomAD 0.005%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2265 of the KMT2A protein (p.Thr2265Pro).
PreventionGenetics, part of Exact Sciences RCV003906592 SCV004735629 likely benign KMT2A-related disorder 2023-09-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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