Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003755544 | SCV004429612 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2022-12-24 | 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. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs780034644, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Pro454Glnfs*42) in the ACD gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACD cause disease. |