ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.728T>C (p.Val243Ala)

gnomAD frequency: 0.00002  dbSNP: rs753509616
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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 RCV001085960 SCV001004021 likely benign Duchenne muscular dystrophy 2024-12-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000863371 SCV001475845 uncertain significance not provided 2020-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381919 SCV002669217 uncertain significance Cardiovascular phenotype 2022-03-08 criteria provided, single submitter clinical testing The p.V243A variant (also known as c.728T>C), located in coding exon 8 of the DMD gene, results from a T to C substitution at nucleotide position 728. The valine at codon 243 is replaced by alanine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.0044% (9/204833) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.0130% (9/92327) 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 RCV000863371 SCV003834745 uncertain significance not provided 2020-03-25 criteria provided, single submitter clinical testing

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