ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)

gnomAD frequency: 0.00005  dbSNP: rs371588290
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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 RCV000253476 SCV000319919 uncertain significance Cardiovascular phenotype 2024-11-15 criteria provided, single submitter clinical testing The p.R2571L variant (also known as c.7712G>T), located in coding exon 53 of the DMD gene, results from a G to T substitution at nucleotide position 7712. The arginine at codon 2571 is replaced by leucine, an amino acid with dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0029% (6/204894) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0214% (6/28040) of Latino alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001246274 SCV001419616 likely benign Duchenne muscular dystrophy 2023-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494792 SCV002776045 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828165 SCV002087736 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-03-27 no assertion criteria provided clinical testing

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