Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000558593 | SCV000636511 | uncertain significance | Bardet-Biedl syndrome | 2022-02-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 363 of the BBS1 protein (p.Leu363Pro). This variant is present in population databases (rs540217506, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of BBS1-related conditions (PMID: 10564830; Invitae). ClinVar contains an entry for this variant (Variation ID: 462951). 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 disruptive. 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. |
Illumina Laboratory Services, |
RCV001104149 | SCV001260990 | uncertain significance | Bardet-Biedl syndrome 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV001591224 | SCV001816218 | uncertain significance | not provided | 2024-11-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV001104149 | SCV002787754 | uncertain significance | Bardet-Biedl syndrome 1 | 2021-12-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001104149 | SCV002094755 | uncertain significance | Bardet-Biedl syndrome 1 | 2019-10-28 | no assertion criteria provided | clinical testing |