ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10228G>A (p.Val3410Ile)

gnomAD frequency: 0.00005  dbSNP: rs751030250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293086 SCV001434069 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Invitae RCV002069367 SCV002491708 likely benign Duchenne muscular dystrophy 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002430061 SCV002682000 uncertain significance Cardiovascular phenotype 2021-05-09 criteria provided, single submitter clinical testing The p.V3410I variant (also known as c.10228G>A), located in coding exon 71 of the DMD gene, results from a G to A substitution at nucleotide position 10228. The valine at codon 3410 is replaced by isoleucine, an amino acid with highly similar properties. This variant has been detected in a suspected Duchenne or Becker muscular dystrophy cohort; however, details were limited (Kumar SH et al. PLoS One, 2020 Jun;15:e0232654). Based on data from gnomAD, the A allele has an overall frequency of 0.006% (10/177649) total alleles studied, with 3 hemizygotes observed. The highest observed frequency was 0.02% (3/17753) of South Asian 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.

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