Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001327455 | SCV001518530 | uncertain significance | Bardet-Biedl syndrome | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 306 of the BBS7 protein (p.Val306Ala). This variant is present in population databases (rs373378747, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1026932). 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 BBS7 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. |
Baylor Genetics | RCV001337097 | SCV001530673 | uncertain significance | Bardet-Biedl syndrome 7 | 2018-01-25 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV001337097 | SCV002791404 | uncertain significance | Bardet-Biedl syndrome 7 | 2022-04-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169538 | SCV003863004 | uncertain significance | Inborn genetic diseases | 2023-03-01 | criteria provided, single submitter | clinical testing | The c.917T>C (p.V306A) alteration is located in exon 9 (coding exon 9) of the BBS7 gene. This alteration results from a T to C substitution at nucleotide position 917, causing the valine (V) at amino acid position 306 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003938634 | SCV004756350 | uncertain significance | BBS7-related condition | 2023-12-01 | criteria provided, single submitter | clinical testing | The BBS7 c.917T>C variant is predicted to result in the amino acid substitution p.Val306Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |