Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001138642 | SCV001298709 | uncertain significance | Mitochondrial DNA depletion syndrome 9 | 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. |
| Invitae | RCV001138642 | SCV003294442 | uncertain significance | Mitochondrial DNA depletion syndrome 9 | 2022-05-03 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the SUCLG1 gene. It does not directly change the encoded amino acid sequence of the SUCLG1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs769207281, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 896150). 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 is not likely to affect RNA splicing. 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. |