Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001202083 | SCV001373182 | uncertain significance | Bardet-Biedl syndrome | 2024-10-25 | 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 480 of the BBS4 protein (p.Thr480Met). This variant is present in population databases (rs754792792, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 933798). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| 3billion | RCV004720295 | SCV005328971 | likely benign | Bardet-Biedl syndrome 4 | 2024-09-20 | criteria provided, single submitter | clinical testing | The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant. |
| Ambry Genetics | RCV004963175 | SCV005544391 | uncertain significance | Inborn genetic diseases | 2024-11-15 | criteria provided, single submitter | clinical testing | The c.1439C>T (p.T480M) alteration is located in exon 15 (coding exon 15) of the BBS4 gene. This alteration results from a C to T substitution at nucleotide position 1439, causing the threonine (T) at amino acid position 480 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV004720295 | SCV005633162 | uncertain significance | Bardet-Biedl syndrome 4 | 2024-06-10 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004749617 | SCV005355483 | uncertain significance | BBS4-related disorder | 2024-05-27 | no assertion criteria provided | clinical testing | The BBS4 c.1439C>T variant is predicted to result in the amino acid substitution p.Thr480Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |