Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198623 | SCV001369617 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2019-09-06 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994231 | SCV004813976 | uncertain significance | not specified | 2024-02-28 | criteria provided, single submitter | clinical testing | Variant summary: UBA1 c.1630C>T (p.Arg544Trp) results in a non-conservative amino acid change located in the THIF-type NAD/FAD binding fold domain (IPR000594) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 165785 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1630C>T in individuals affected with UBA1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 931743). Based on the evidence outlined above, the variant was classified as uncertain significance. |