Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502105 | SCV000593585 | uncertain significance | not specified | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001373464 | SCV001570180 | uncertain significance | Bardet-Biedl syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 562 of the BBS1 protein (p.Asp562Tyr). This variant is present in population databases (rs768098877, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 434482). 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. |
Natera, |
RCV001829423 | SCV002094777 | uncertain significance | Bardet-Biedl syndrome 1 | 2021-04-21 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003419856 | SCV004107116 | uncertain significance | BBS1-related disorder | 2024-07-29 | no assertion criteria provided | clinical testing | The BBS1 c.1684G>T variant is predicted to result in the amino acid substitution p.Asp562Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |