ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)

gnomAD frequency: 0.00009  dbSNP: rs1023328955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557446 SCV000625935 likely benign Duchenne muscular dystrophy 2024-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766086 SCV000897561 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367771 SCV002661202 uncertain significance Cardiovascular phenotype 2023-03-21 criteria provided, single submitter clinical testing The p.E2137Q variant (also known as c.6409G>C), located in coding exon 44 of the DMD gene, results from a G to C substitution at nucleotide position 6409. The glutamic acid at codon 2137 is replaced by glutamine, an amino acid with highly similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (5/203204) total alleles studied, including one hemizygote. The highest observed frequency was 0.02% (4/18954) of African alleles. This amino acid position is not 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. RCV001834733 SCV002090328 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-11 no assertion criteria provided clinical testing

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