Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000798460 | SCV000938078 | uncertain significance | Neuropathy, hereditary motor and sensory, type 6B | 2021-08-12 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the SLC25A46 gene. It does not directly change the encoded amino acid sequence of the SLC25A46 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs769567758, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SLC25A46-related conditions. 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. |
| Ambry Genetics | RCV002332609 | SCV002633491 | uncertain significance | Inborn genetic diseases | 2020-04-01 | criteria provided, single submitter | clinical testing | The c.463-3delT intronic variant is located 3 nucleotides upstream from coding exon 5 of the SLC25A46 gene. This variant results from a deletion of one nucleotide at position c.463-3. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |