ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.657T>A (p.Asp219Glu)

gnomAD frequency: 0.00001  dbSNP: rs771312947
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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 RCV000704007 SCV000832940 likely benign Duchenne muscular dystrophy 2024-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360816 SCV002666009 uncertain significance Cardiovascular phenotype 2022-09-23 criteria provided, single submitter clinical testing The p.D219E variant (also known as c.657T>A), located in coding exon 8 of the DMD gene, results from a T to A substitution at nucleotide position 657. The aspartic acid at codon 219 is replaced by glutamic acid, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.0022% (4/182437) total alleles studied, with 1 hemizygotes observed. The highest observed frequency was 0.0289% (4/13828) of East Asian alleles. This amino acid position is poorly 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. RCV001825390 SCV002090485 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-03-18 no assertion criteria provided clinical testing

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