Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000764994 | SCV000373259 | uncertain significance | Bardet-Biedl syndrome 1 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV000302278 | SCV000759854 | uncertain significance | Bardet-Biedl syndrome | 2022-10-25 | 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 79 of the BBS1 protein (p.Glu79Lys). This variant is present in population databases (rs138744839, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 305458). 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. |
Athena Diagnostics Inc | RCV000710723 | SCV000841021 | uncertain significance | not provided | 2018-08-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764994 | SCV000896177 | uncertain significance | Bardet-Biedl syndrome 1 | 2021-09-27 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000764994 | SCV001526999 | uncertain significance | Bardet-Biedl syndrome 1 | 2018-06-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genetic Services Laboratory, |
RCV001820903 | SCV002066216 | uncertain significance | not specified | 2017-08-08 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV000764994 | SCV003925091 | uncertain significance | Bardet-Biedl syndrome 1 | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710723 | SCV004014528 | uncertain significance | not provided | 2023-01-17 | 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 |
Prevention |
RCV003417984 | SCV004107398 | uncertain significance | BBS1-related condition | 2024-01-03 | criteria provided, single submitter | clinical testing | The BBS1 c.235G>A variant is predicted to result in the amino acid substitution p.Glu79Lys. This variant has been reported in two patients with primary ciliary dyskinesia and male infertility (Supp. Table 2, El Khouri et al. 2016. PubMed ID: 27486783). This variant is reported in 0.14% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which may be too common to be a primary cause of disease. 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. |
Dept Of Ophthalmology, |
RCV003888718 | SCV004707598 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Natera, |
RCV000764994 | SCV001454308 | uncertain significance | Bardet-Biedl syndrome 1 | 2020-09-16 | no assertion criteria provided | clinical testing |