ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)

gnomAD frequency: 0.00002  dbSNP: rs1055371114
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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 RCV001306946 SCV001496334 likely benign Duchenne muscular dystrophy 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002437047 SCV002751651 uncertain significance Cardiovascular phenotype 2022-06-24 criteria provided, single submitter clinical testing The p.Q926K variant (also known as c.2776C>A), located in coding exon 21 of the DMD gene, results from a C to A substitution at nucleotide position 2776. The glutamine at codon 926 is replaced by lysine, an amino acid with similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.002% (4/182706) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.04% (3/7473) of Ashkenazi Jewish 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. RCV001830234 SCV002089675 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-29 no assertion criteria provided clinical testing

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