Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002576388 | SCV002929361 | uncertain significance | not provided | 2022-04-19 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 4 of the CYC1 protein (p.Ala4Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CYC1-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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. |
Revvity Omics, |
RCV003146584 | SCV003830376 | uncertain significance | Mitochondrial complex III deficiency nuclear type 6 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004064398 | SCV004852800 | uncertain significance | not specified | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.11C>T (p.A4V) alteration is located in exon 1 (coding exon 1) of the CYC1 gene. This alteration results from a C to T substitution at nucleotide position 11, causing the alanine (A) at amino acid position 4 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |