Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001414428 | SCV001616565 | likely benign | Infantile-onset X-linked spinal muscular atrophy | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002432147 | SCV002741119 | uncertain significance | Inborn genetic diseases | 2021-02-17 | criteria provided, single submitter | clinical testing | The c.2554-6T>C intronic variant results from a T to C substitution 6 nucleotides upstream from coding exon 21 in the UBA1 gene. Based on data from gnomAD, the C allele has an overall frequency of 0.0005% (1/180711) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.0223% (1/4483) of Other alleles. This nucleotide position is highly conserved in available vertebrate species. 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. |