Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224641 | SCV000281561 | uncertain significance | not provided | 2016-01-11 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV000631403 | SCV000752474 | uncertain significance | Leigh syndrome | 2022-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 117 of the SURF1 protein (p.Tyr117Ser). This variant is present in population databases (rs145615218, 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: 235744). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SURF1 protein function. 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. |
Ce |
RCV000224641 | SCV001500575 | uncertain significance | not provided | 2020-08-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000224641 | SCV004225133 | uncertain significance | not provided | 2023-05-15 | criteria provided, single submitter | clinical testing | PP3 |
Diagnostic Laboratory, |
RCV000224641 | SCV001740075 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000224641 | SCV001797788 | uncertain significance | not provided | no assertion criteria provided | clinical testing |