Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050228 | SCV001214327 | uncertain significance | Bardet-Biedl syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 113 of the BBS4 protein (p.Leu113Phe). This variant is present in population databases (rs760909426, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 846825). 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. |
Gene |
RCV001759981 | SCV001989723 | uncertain significance | not provided | 2019-04-24 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Prevention |
RCV003928682 | SCV004742208 | uncertain significance | BBS4-related condition | 2023-12-26 | criteria provided, single submitter | clinical testing | The BBS4 c.337C>T variant is predicted to result in the amino acid substitution p.Leu113Phe. This variant was reported as a variant of uncertain significance in an obesity cohort; however, no additional studies were performed to help assess the pathogenicity of this variant (https://onlinelibrary.wiley.com/doi/10.1002/osp4.671). This variant is reported in 0.052% of alleles in individuals of European (Finnish) descent in gnomAD. 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. |
Genome |
RCV001050228 | SCV001749591 | not provided | Bardet-Biedl syndrome | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 10-29-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |