Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000384245 | SCV000373269 | uncertain significance | Bardet-Biedl syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000384245 | SCV001377265 | uncertain significance | Bardet-Biedl syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 293 of the BBS1 protein (p.Val293Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs769422545, ExAC 0.004%). 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: 305463). 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: "Tolerated"; 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. |
Fulgent Genetics, |
RCV001833444 | SCV002776755 | uncertain significance | Bardet-Biedl syndrome 1 | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003278755 | SCV003979443 | uncertain significance | Inborn genetic diseases | 2023-04-26 | criteria provided, single submitter | clinical testing | The c.877G>A (p.V293M) alteration is located in exon 10 (coding exon 10) of the BBS1 gene. This alteration results from a G to A substitution at nucleotide position 877, causing the valine (V) at amino acid position 293 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003977884 | SCV004788364 | uncertain significance | BBS1-related condition | 2023-10-20 | criteria provided, single submitter | clinical testing | The BBS1 c.877G>A variant is predicted to result in the amino acid substitution p.Val293Met. To our knowledge, this variant has not been reported in association with Bardet-Biedl syndrome in the literature. This variant is reported in 0.0053% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-66290973-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001833444 | SCV002094746 | uncertain significance | Bardet-Biedl syndrome 1 | 2019-10-28 | no assertion criteria provided | clinical testing |