Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061584 | SCV001226332 | uncertain significance | Leigh syndrome | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change affects codon 197 of the SURF1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SURF1 protein. This variant is present in population databases (rs373355971, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SURF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 856179). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |