Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002513292 | SCV003442277 | likely pathogenic | Dyskeratosis congenita | 2022-03-22 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 284 of the TINF2 protein (p.Thr284Ala). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). ClinVar contains an entry for this variant (Variation ID: 38923). This missense change has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 18669893; Invitae). In at least one individual the variant was observed to be de novo. |
| Gene |
RCV000032174 | SCV000055753 | not provided | Dyskeratosis congenita, autosomal dominant 1 | no assertion provided | literature only |