Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001064728 | SCV001229646 | uncertain significance | Bardet-Biedl syndrome | 2022-07-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 705 of the BBS12 protein (p.Thr705Met). This variant is present in population databases (rs372102223, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 858778). 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: "Benign"; 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. |
Gene |
RCV001576577 | SCV001803791 | uncertain significance | not provided | 2020-04-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV001272728 | SCV002775582 | uncertain significance | Bardet-Biedl syndrome 12 | 2024-04-08 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001272728 | SCV003829795 | uncertain significance | Bardet-Biedl syndrome 12 | 2021-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004030556 | SCV004911768 | uncertain significance | Inborn genetic diseases | 2023-01-06 | criteria provided, single submitter | clinical testing | The c.2114C>T (p.T705M) alteration is located in exon 2 (coding exon 1) of the BBS12 gene. This alteration results from a C to T substitution at nucleotide position 2114, causing the threonine (T) at amino acid position 705 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001272728 | SCV001454986 | uncertain significance | Bardet-Biedl syndrome 12 | 2020-01-24 | no assertion criteria provided | clinical testing |