Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059868 | SCV001224520 | uncertain significance | Bardet-Biedl syndrome | 2022-07-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 4 of the WDPCP protein (p.Glu4Lys). This variant is present in population databases (rs763789574, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with WDPCP-related conditions. ClinVar contains an entry for this variant (Variation ID: 854753). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Prevention |
RCV003405271 | SCV004113960 | uncertain significance | WDPCP-related condition | 2022-09-21 | criteria provided, single submitter | clinical testing | The WDPCP c.10G>A variant is predicted to result in the amino acid substitution p.Glu4Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.080% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-63815396-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |