ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.4507+5A>G

dbSNP: rs2129129571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249274 SCV002518523 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003708626 SCV004476144 uncertain significance not provided 2023-07-22 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. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1685547). This variant has not been reported in the literature in individuals affected with KMT2C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 29 of the KMT2C gene. It does not directly change the encoded amino acid sequence of the KMT2C protein. It affects a nucleotide within the consensus splice site.

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