Submissions for variant NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro)

dbSNP: rs1565759674

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768007	SCV000898786	uncertain significance	Kabuki syndrome 1	2018-09-12	criteria provided, single submitter	clinical testing	KMT2D NM_003482.3 exon 48 p.His5114Pro (c.15341A>C): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224807	SCV003920884	likely pathogenic	Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	2021-03-30	criteria provided, single submitter	clinical testing	KMT2D NM_003482.3 exon 48 p.His5114Pro (c.15341A>C): This variant has not been reported in the literature but has been identified by our laboratory as de novo in 1 individual with a clinical suspicion of Kabuki syndrome. This variant is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.