ClinVar Miner

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

dbSNP: rs759557020
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Total submissions: 4
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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).

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