ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9094G>A (p.Glu3032Lys)

gnomAD frequency: 0.00004  dbSNP: rs72466562
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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 RCV000697653 SCV000826278 likely benign Duchenne muscular dystrophy 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442483 SCV002683097 uncertain significance Cardiovascular phenotype 2023-05-26 criteria provided, single submitter clinical testing The p.E3032K variant (also known as c.9094G>A), located in coding exon 61 of the DMD gene, results from a G to A substitution at nucleotide position 9094. The glutamic acid at codon 3032 is replaced by lysine, an amino acid with similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.003% (5/179395) total alleles studied, with 2 hemizygotes observed. The highest observed frequency was 0.01% (2/18216) of South Asian 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. RCV001830532 SCV002080194 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-30 no assertion criteria provided clinical testing

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