Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 | |
Gene |
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, |
RCV001610532 | SCV003830055 | uncertain significance | not provided | 2022-03-19 | criteria provided, single submitter | clinical testing |