ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)

gnomAD frequency: 0.00002  dbSNP: rs759274835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248044 SCV000319992 uncertain significance Cardiovascular phenotype 2024-09-13 criteria provided, single submitter clinical testing The p.R2477W variant (also known as c.7429C>T), located in coding exon 51 of the DMD gene, results from a C to T substitution at nucleotide position 7429. The arginine at codon 2477 is replaced by tryptophan, an amino acid with dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0044% (8/183223) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0361% (5/13856) of East 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001067594 SCV001232662 likely benign Duchenne muscular dystrophy 2024-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479986 SCV002788622 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828166 SCV002087768 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-06-25 no assertion criteria provided clinical testing

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