ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3938G>A (p.Arg1313Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002961913 SCV003280863 benign Kabuki syndrome 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010824 SCV005636041 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758899 SCV005351681 uncertain significance KMT2D-related disorder 2024-05-28 no assertion criteria provided clinical testing The KMT2D c.3938G>A variant is predicted to result in the amino acid substitution p.Arg1313Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0030% of alleles in individuals of Latino descent in gnomAD. 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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