Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003337749 | SCV004047994 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | criteria provided, single submitter | clinical testing | The missense variant c.2897A>C (p.Asn966Thr) in UBA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn966Thr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Asn at position 966 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asn966Thr in UBA1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS). |