ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)

gnomAD frequency: 0.00001  dbSNP: rs1258008817
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517847 SCV000613946 uncertain significance not specified 2016-12-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659759 SCV000781608 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730803 SCV000858566 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000659759 SCV001477913 uncertain significance Kabuki syndrome 1 2020-06-11 criteria provided, single submitter clinical testing The KMT2D c.7998C>A; p.Asp2666Glu variant (rs1258008817), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 447672). This variant is found in the general population with an overall allele frequency of 0.0029% (8/280302 alleles) in the Genome Aggregation Database. The aspartic acid at codon 2666 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Asp2666Glu variant is uncertain at this time.
Invitae RCV002525047 SCV003462889 benign Kabuki syndrome 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525048 SCV003552295 likely benign Inborn genetic diseases 2022-01-10 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.
PreventionGenetics, part of Exact Sciences RCV004537850 SCV004717895 likely benign KMT2D-related disorder 2023-01-06 criteria provided, single submitter 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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