Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196614 | SCV000252348 | uncertain significance | not provided | 2014-04-16 | criteria provided, single submitter | clinical testing | p.Asp108Asn (GAC>AAC): c.322 G>A in exon 4 of the SURF1 gene (NM_003172.2) The D108N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D108N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
Illumina Laboratory Services, |
RCV001168781 | SCV001331395 | uncertain significance | Leigh syndrome | 2017-04-28 | 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. |
Invitae | RCV001168781 | SCV002212662 | uncertain significance | Leigh syndrome | 2022-06-15 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 108 of the SURF1 protein (p.Asp108Asn). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 215231). 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: "Benign"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002478693 | SCV002783685 | uncertain significance | Cytochrome-c oxidase deficiency disease; Charcot-Marie-Tooth disease type 4K | 2022-04-07 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000196614 | SCV004225134 | uncertain significance | not provided | 2022-02-28 | criteria provided, single submitter | clinical testing | PM2 |