Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199891 | SCV000251511 | uncertain significance | not provided | 2018-12-28 | criteria provided, single submitter | clinical testing | p.Leu391Val (TTG>GTG): c.1171 T>G in exon 10 of the FOXRED1 gene (NM_017547.3). The L391V missense change has not been published as a mutation or a benign polymorphism to our knowledge. The amino acid change is conservative in that both Leucine and Valine are uncharged, non-polar amino acids. This change occurs at a position in the FOXRED1 gene that is conserved in mammals. The majority of the in-silico models used predict that L391V is damaging to the FOXRED1 protein. Therefore, based on the currently available information it is unclear whether L391V would be a disease causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
Fulgent Genetics, |
RCV000763714 | SCV000894594 | uncertain significance | Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000199891 | SCV001016140 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001107765 | SCV001264943 | uncertain significance | Mitochondrial complex I deficiency, nuclear type 1 | 2017-12-27 | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Laboratory of Diagnostic Genome Analysis, |
RCV000199891 | SCV001798588 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000199891 | SCV001971271 | likely benign | not provided | no assertion criteria provided | clinical testing |