Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418468 | SCV000531445 | uncertain significance | not provided | 2021-06-21 | 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; This variant is associated with the following publications: (PMID: 27535533) |
Invitae | RCV001246669 | SCV001420043 | uncertain significance | Bardet-Biedl syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 190 of the BBS1 protein (p.Lys190Met). This variant is present in population databases (rs778672601, gnomAD 0.1%). 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: 389028). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BBS1 protein function. 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. |
Fulgent Genetics, |
RCV001828435 | SCV002779763 | uncertain significance | Bardet-Biedl syndrome 1 | 2022-03-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003418130 | SCV004116649 | uncertain significance | BBS1-related condition | 2023-08-01 | criteria provided, single submitter | clinical testing | The BBS1 c.569A>T variant is predicted to result in the amino acid substitution p.Lys190Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.096% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-66283382-A-T), which is likely too common for an undocumented disease-causing variant. 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. |
Natera, |
RCV001828435 | SCV002094730 | uncertain significance | Bardet-Biedl syndrome 1 | 2019-10-28 | no assertion criteria provided | clinical testing |