Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198020 | SCV000251883 | uncertain significance | not provided | 2015-11-03 | criteria provided, single submitter | clinical testing | c.393+5 G>A: IVS4+5 G>A in intron 4 of the NDUFS2 gene (NM_004550.4). The c.393+5 G>A variant of unknown significance identified in the NDUFS2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. In-silico splice prediction models predict that c.393+5 G>A damages or destroys the natural splice donor site in intron 4 which would be expected to lead to abnormal gene splicing. However, the true effect of c.393+5 G>A in vivo is not known. Therefore, based on the currently available information, it is unclear whether c.393+5 G>A is a disease-causing mutation or a rare benign variant. The variant is found in LSME-MITOP panel(s). |
Invitae | RCV000198020 | SCV002279985 | uncertain significance | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 214800). This variant has not been reported in the literature in individuals affected with NDUFS2-related conditions. This variant is present in population databases (rs375651203, gnomAD 0.1%). This sequence change falls in intron 4 of the NDUFS2 gene. It does not directly change the encoded amino acid sequence of the NDUFS2 protein. It affects a nucleotide within the consensus splice site. |
Genome- |
RCV003343696 | SCV004048801 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 6 | 2023-04-11 | criteria provided, single submitter | clinical testing |