Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001223395 | SCV001395543 | uncertain significance | Duchenne muscular dystrophy | 2022-12-20 | criteria provided, single submitter | clinical testing | 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 may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 951471). This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 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. |
| Ambry Genetics | RCV003163739 | SCV003853644 | uncertain significance | Cardiovascular phenotype | 2022-12-09 | criteria provided, single submitter | clinical testing | The c.31+2dupT intronic variant, results from a duplication of one nucleotide after coding exon 1 of the DMD gene. This variant (referred to as c.31+3insT) has been detected in individuals reported to have dilated cardiomyopathy (Wang Z et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Jul;36:666-671; Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |