ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2383_2409dup (p.Glu803_Leu804insProHisLeuSerProGlnProGluGlu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002967640 SCV003288864 uncertain significance Kabuki syndrome 2024-12-16 criteria provided, single submitter clinical testing This variant, c.2383_2409dup, results in the insertion of 9 amino acid(s) of the KMT2D protein (p.Pro795_Glu803dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752597307, gnomAD 0.01%). 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: 2075330). 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.
Fulgent Genetics, Fulgent Genetics RCV005010841 SCV005636101 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-14 criteria provided, single submitter clinical testing

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