ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.842G>C (p.Ser281Thr)

gnomAD frequency: 0.00002  dbSNP: rs762274027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697830 SCV000492229 likely benign not provided 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000803894 SCV000943781 likely benign Duchenne muscular dystrophy 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446637 SCV002677799 uncertain significance Cardiovascular phenotype 2023-06-22 criteria provided, single submitter clinical testing The p.S281T variant (also known as c.842G>C), located in coding exon 9 of the DMD gene, results from a G to C substitution at nucleotide position 842. The serine at codon 281 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.0071% (11/154599) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0151% (10/66325) of European (non-Finnish) alleles. This amino acid position is well 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.

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