Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000200389 | SCV000252350 | uncertain significance | not provided | 2021-06-23 | criteria provided, single submitter | clinical testing | Functional studies demonstrate R137W decreases complex IV assembly but without affecting SURF1 stability (Li et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29933018, 27535533) |
| Illumina Laboratory Services, |
RCV001168010 | SCV001330563 | uncertain significance | Leigh syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Fulgent Genetics, |
RCV002485308 | SCV002778909 | uncertain significance | Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K | 2022-05-31 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001168010 | SCV003213273 | uncertain significance | Leigh syndrome | 2022-07-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 137 of the SURF1 protein (p.Arg137Trp). This variant is present in population databases (rs373551988, gnomAD 0.07%). 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: 215233). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects SURF1 function (PMID: 29933018). 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. |
| Mayo Clinic Laboratories, |
RCV000200389 | SCV004225132 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | PP3, PM2, PS3_supporting |