Submissions for variant NM_031885.5(BBS2):c.194A>T (p.Asp65Val)

gnomAD frequency: 0.00001  dbSNP: rs746643609

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001896380	SCV002165308	uncertain significance	Bardet-Biedl syndrome	2021-08-31	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with valine at codon 65 of the BBS2 protein (p.Asp65Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs746643609, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. 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: "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.
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	RCV004584229	SCV005061796	uncertain significance	Bardet-Biedl syndrome 2		criteria provided, single submitter	clinical testing