ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.4696+5C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002786605 SCV003032686 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the KMT2A gene. It does not directly change the encoded amino acid sequence of the KMT2A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs374209348, gnomAD 0.007%). 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: 1989623). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV003963360 SCV004781140 likely benign KMT2A-related disorder 2022-07-11 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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