ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.2554-6T>C

gnomAD frequency: 0.00001  dbSNP: rs370565575
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Total submissions: 2
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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.

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