Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331472 | SCV001523514 | pathogenic | Mitochondrial complex IV deficiency, nuclear type 1 | 2019-02-26 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
3billion | RCV001810031 | SCV002059189 | pathogenic | Mitochondrial complex 4 deficiency, nuclear type 17 | 2022-01-03 | criteria provided, single submitter | clinical testing | The variant has been reported to be associated with COA8 related disorder (ClinVar ID: VCV001030024). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000072, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Gene |
RCV002298934 | SCV002588274 | uncertain significance | not provided | 2022-08-06 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002298934 | SCV003288935 | pathogenic | not provided | 2022-10-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg11Alafs*57) in the APOPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOPT1 are known to be pathogenic (PMID: 25175347). This variant is present in population databases (rs559856575, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with APOPT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030024). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV004035716 | SCV004926615 | uncertain significance | Inborn genetic diseases | 2022-02-04 | criteria provided, single submitter | clinical testing | The c.30dupG (p.R11Afs*57) alteration, located in exon 1 (coding exon 1) of the APOPT1 gene, consists of a duplication of G at position 30, causing a translational frameshift with a predicted alternate stop codon after 57 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |