Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545623 | SCV000630964 | uncertain significance | Jeune thoracic dystrophy; Nephronophthisis | 2021-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 513 of the TTC21B protein (p.Asn513Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs200137653, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 459285). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". 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, |
RCV002483378 | SCV002792088 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-02-11 | criteria provided, single submitter | clinical testing |