ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2599A>G (p.Lys867Glu)

gnomAD frequency: 0.00001  dbSNP: rs1382610511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057816 SCV001222331 likely benign Duchenne muscular dystrophy 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160465 SCV003868450 uncertain significance Cardiovascular phenotype 2022-12-09 criteria provided, single submitter clinical testing The p.K867E variant (also known as c.2599A>G), located in coding exon 20 of the DMD gene, results from an A to G substitution at nucleotide position 2599. The lysine at codon 867 is replaced by glutamic acid, an amino acid with similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0005% (1/183440) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0012% (1/81885) of European (non-Finnish) alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836097 SCV002089706 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-24 no assertion criteria provided clinical testing

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