ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3755G>A (p.Arg1252Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006510 SCV005636050 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004730576 SCV005337748 uncertain significance KMT2D-related disorder 2024-08-06 no assertion criteria provided clinical testing The KMT2D c.3755G>A variant is predicted to result in the amino acid substitution p.Arg1252Gln. To our knowledge, this variant has not been reported in the literature in individuals with KMT2D-related disorders, nor has it been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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