Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688143 | SCV000815745 | uncertain significance | Bardet-Biedl syndrome | 2021-02-09 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BBS9-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 749 of the BBS9 protein (p.Val749Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. |
Ambry Genetics | RCV002544801 | SCV003734558 | uncertain significance | Inborn genetic diseases | 2022-09-26 | criteria provided, single submitter | clinical testing | The c.2245G>C (p.V749L) alteration is located in exon 20 (coding exon 19) of the BBS9 gene. This alteration results from a G to C substitution at nucleotide position 2245, causing the valine (V) at amino acid position 749 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |