ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del)

dbSNP: rs576788910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146156 SCV000193379 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857512 SCV002143958 uncertain significance Kabuki syndrome 2024-08-14 criteria provided, single submitter clinical testing This variant, c.11756_11758del, results in the deletion of 1 amino acid(s) of the KMT2D protein (p.Gln3919del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 158719). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736603 SCV004563865 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing The KMT2D c.11756_11758del; p.Gln3919del variant (rs576788910), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 158719). This variant is found in the general population with an overall allele frequency of 0.02% (37/182812 alleles) in the Genome Aggregation Database. This variant deletes a single glutamine residue leaving the rest of the protein in-frame. Due to limited information, the clinical significance of this variant is uncertain at this time.

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