ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del)

dbSNP: rs759377845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791035 SCV000930302 uncertain significance Kabuki syndrome 1 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV001873233 SCV002270128 uncertain significance Kabuki syndrome 2022-11-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 638391). This variant is present in population databases (rs759377845, gnomAD 0.006%). This variant, c.1893_1919del, results in the deletion of 9 amino acid(s) of the KMT2D protein (p.Asp632_Glu640del), but otherwise preserves the integrity of the reading frame.

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