Submissions for variant NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)

gnomAD frequency: 0.00011  dbSNP: rs199593058

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733020	SCV000861032	uncertain significance	not provided	2018-05-17	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768006	SCV000898785	uncertain significance	Kabuki syndrome 1	2017-10-10	criteria provided, single submitter	clinical testing	KMT2D NM_003482.3 exon 48 p.Ile5232Val (c.15694A>G): This variant has not been reported in the literature but is present in 25/126658 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs199593058). This variant is present in ClinVar (Variation ID:309000). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx	RCV000733020	SCV001811597	likely benign	not provided	2020-05-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30459467)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001859847	SCV002139716	benign	Kabuki syndrome	2024-10-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002520810	SCV003739771	likely benign	Inborn genetic diseases	2022-02-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224256	SCV003920116	uncertain significance	Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	2021-03-30	criteria provided, single submitter	clinical testing	KMT2D NM_003482 exon 48 p.Ile5232Val (c.15694A>G): This variant has not been reported in the literature but is present in 25/126658 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs199593058). This variant is present in ClinVar (Variation ID:309000). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.