Submissions for variant NM_003482.4(KMT2D):c.2694_2708del (p.Ala899_Pro903del)

dbSNP: rs759557020

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001756385	SCV001985115	benign	not provided	2021-09-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002077185	SCV002436079	likely benign	Kabuki syndrome	2024-10-23	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003227986	SCV003924267	uncertain significance	Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	2021-12-22	criteria provided, single submitter	clinical testing	KMT2D NM_003482.4 exon 11 p.Ala899_Pro903del (c.2694_2708del): This variant has not been reported in the literature, but is present in 0.1% (30/26660) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-49444757-AGGCTCAGACAGGGCT-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 5 amino acids at position 899 to 903 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences	RCV004758822	SCV005352907	likely benign	KMT2D-related disorder	2024-09-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).