Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000400895 | SCV000330201 | uncertain significance | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 28125078, 31589614) |
Invitae | RCV000634505 | SCV000755821 | uncertain significance | Dyskeratosis congenita | 2022-09-01 | 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. ClinVar contains an entry for this variant (Variation ID: 280299). This variant has not been reported in the literature in individuals affected with TINF2-related conditions. This variant is present in population databases (rs201677741, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This sequence change creates a premature translational stop signal (p.Tyr312*) in the TINF2 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 TINF2 cause disease. |
Fulgent Genetics, |
RCV002487176 | SCV002780797 | uncertain significance | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3 | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001824719 | SCV002075251 | not provided | Hoyeraal-Hreidarsson syndrome; Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | no assertion provided | phenotyping only | Variant classified as Pathogenic and reported on 03-13-2016 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |