ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)

gnomAD frequency: 0.00002  dbSNP: rs1015097529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239674 SCV001412565 likely benign Duchenne muscular dystrophy 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418820 SCV002676428 uncertain significance Cardiovascular phenotype 2022-09-13 criteria provided, single submitter clinical testing The p.R2649W variant (also known as c.7945C>T), located in coding exon 54 of the DMD gene, results from a C to T substitution at nucleotide position 7945. The arginine at codon 2649 is replaced by tryptophan, an amino acid with dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (1/183232) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (1/81735) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145460 SCV003830023 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828929 SCV002087721 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-29 no assertion criteria provided clinical testing

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