Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811826 | SCV000952113 | uncertain significance | Dyskeratosis congenita | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 344 of the TINF2 protein (p.Pro344Ser). This variant is present in population databases (rs200454893, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TINF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 655611). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Fulgent Genetics, |
RCV002487770 | SCV002780873 | uncertain significance | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3 | 2021-11-10 | criteria provided, single submitter | clinical testing |