Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000485612 | SCV000566130 | likely pathogenic | not provided | 2024-07-17 | 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; Not observed at significant frequency in large population cohorts (gnomAD); Has been listed in the published literature as a heterozygous variant in a single individual who was part of a precision medicine study to integrate whole genome sequencing with deep phenotyping; specific clinical details on the patient were not specified (PMID: 31980526); This variant is associated with the following publications: (PMID: 31980526) |
| Fulgent Genetics, |
RCV001536014 | SCV001752694 | likely pathogenic | Mitochondrial complex 4 deficiency, nuclear type 4 | 2024-03-08 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000485612 | SCV003289996 | pathogenic | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser88Argfs*11) in the SCO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCO1 are known to be pathogenic (PMID: 11013136, 23878101). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SCO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 418798). For these reasons, this variant has been classified as Pathogenic. |