Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464316 | SCV000552241 | uncertain significance | Nephronophthisis | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 815 of the INVS protein (p.Arg815Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs564509196, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with INVS-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Eurofins Ntd Llc |
RCV000732719 | SCV000860700 | uncertain significance | not provided | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506129 | SCV002816983 | uncertain significance | Infantile nephronophthisis | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243140 | SCV003953318 | uncertain significance | Inborn genetic diseases | 2023-04-25 | criteria provided, single submitter | clinical testing | The c.2443C>T (p.R815W) alteration is located in exon 14 (coding exon 13) of the INVS gene. This alteration results from a C to T substitution at nucleotide position 2443, causing the arginine (R) at amino acid position 815 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |