Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640815 | SCV000762414 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2022-12-21 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 533614). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change falls in intron 20 of the UBA1 gene. It does not directly change the encoded amino acid sequence of the UBA1 protein. It affects a nucleotide within the consensus splice site. |
Ambry Genetics | RCV002458055 | SCV002736071 | uncertain significance | Inborn genetic diseases | 2019-12-05 | criteria provided, single submitter | clinical testing | The c.2464+6_2464+9delGGTG intronic variant, located in intron 19 of the UBA1 gene, results from a deletion of 4 nucleotides within intron 19 of the UBA1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |