ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)

gnomAD frequency: 0.00014  dbSNP: rs151150099
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220066 SCV000271660 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing The p.His1269Tyr variant in DMD has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/8368 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs15 1150099). Computational prediction tools and conservation analysis do not provid e strong support for or against an impact to the protein. Computational splicing tools suggest this variant may lead to the creation of a novel 5' splice site; however, this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the p.His1269Tyr variant is uncertain.
Invitae RCV000630519 SCV000751480 likely benign Duchenne muscular dystrophy 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001610532 SCV001842241 benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354606 SCV002620177 uncertain significance Cardiovascular phenotype 2023-03-07 criteria provided, single submitter clinical testing The p.H1269Y variant (also known as c.3805C>T), located in coding exon 28 of the DMD gene, results from a C to T substitution at nucleotide position 3805. The histidine at codon 1269 is replaced by tyrosine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0049% (10/204406) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0474% (9/19003) of African alleles. This amino acid position is not 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.
Revvity Omics, Revvity RCV001610532 SCV003830055 uncertain significance not provided 2022-03-19 criteria provided, single submitter clinical testing

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