Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000555499 | SCV000654414 | uncertain significance | Nephronophthisis 16 | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 638 of the ANKS6 protein (p.Ser638Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs200373053, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ANKS6-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: "Probably 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. |
| Fulgent Genetics, |
RCV000555499 | SCV002789889 | uncertain significance | Nephronophthisis 16 | 2022-05-17 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003243195 | SCV003952416 | uncertain significance | Inborn genetic diseases | 2023-05-09 | criteria provided, single submitter | clinical testing | The c.1913C>T (p.S638L) alteration is located in exon 10 (coding exon 10) of the ANKS6 gene. This alteration results from a C to T substitution at nucleotide position 1913, causing the serine (S) at amino acid position 638 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |