ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys)

gnomAD frequency: 0.00001  dbSNP: rs779233737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232982 SCV001405558 likely benign Duchenne muscular dystrophy 2024-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001534502 SCV001751437 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375240 SCV002688350 uncertain significance Cardiovascular phenotype 2023-09-08 criteria provided, single submitter clinical testing The p.R3160C variant (also known as c.9478C>T), located in coding exon 65 of the DMD gene, results from a C to T substitution at nucleotide position 9478. The arginine at codon 3160 is replaced by cysteine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.001% (2/183399) total alleles studied, including a total of 2 hemizygotes. The highest observed frequency was 0.002% (2/81868) of European non-Finnish alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001534502 SCV003829525 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing

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