ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser)

gnomAD frequency: 0.00003  dbSNP: rs756160145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289576 SCV000343010 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088292 SCV001003776 likely benign Duchenne muscular dystrophy 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374480 SCV002684454 uncertain significance Cardiovascular phenotype 2023-02-14 criteria provided, single submitter clinical testing The p.P2893S variant (also known as c.8677C>T), located in coding exon 59 of the DMD gene, results from a C to T substitution at nucleotide position 8677. The proline at codon 2893 is replaced by serine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0033% (6/182473) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.0074% (6/81076) of European (non-Finnish) alleles. This amino acid position is highly 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.
Revvity Omics, Revvity RCV000289576 SCV003829483 uncertain significance not provided 2020-09-24 criteria provided, single submitter clinical testing

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