ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6614+4G>A

gnomAD frequency: 0.00001  dbSNP: rs1475894426
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001966034 SCV002237853 uncertain significance Duchenne muscular dystrophy 2023-12-06 criteria provided, single submitter clinical testing This sequence change falls in intron 45 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1461798). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002361310 SCV002663468 uncertain significance Cardiovascular phenotype 2021-09-27 criteria provided, single submitter clinical testing The c.6614+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 45 in the DMD gene. This nucleotide position is not well conserved in available vertebrate species. Based on data from gnomAD, the A allele has an overall frequency of <0.01% (1/182774) total alleles studied, with 1 hemizygote observed. The highest observed frequency was <0.01% (1/27341) of Latino/Admixed American alleles. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.