ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12650AGC[6] (p.Gln4221dup)

dbSNP: rs754290613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590359 SCV001826232 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing In-frame insertion of 1 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002573355 SCV003286471 uncertain significance Kabuki syndrome 2024-06-29 criteria provided, single submitter clinical testing This variant, c.12662_12664dup, results in the insertion of 1 amino acid(s) of the KMT2D protein (p.Gln4221dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757932721, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. This variant has been observed in at least one individual who was not affected with KMT2D-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1218100). 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 RCV005005980 SCV005634257 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-06-12 criteria provided, single submitter clinical testing

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