Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243861 | SCV001417047 | uncertain significance | Bardet-Biedl syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with histidine at codon 402 of the WDPCP protein (p.Gln402His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with WDPCP-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. |
Ambry Genetics | RCV002564077 | SCV003611179 | uncertain significance | Inborn genetic diseases | 2022-04-13 | criteria provided, single submitter | clinical testing | The c.1206A>T (p.Q402H) alteration is located in exon 10 (coding exon 10) of the WDPCP gene. This alteration results from a A to T substitution at nucleotide position 1206, causing the glutamine (Q) at amino acid position 402 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |