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.
Labcorp Genetics (formerly Invitae), Labcorp 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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