Submissions for variant NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)

gnomAD frequency: 0.00042  dbSNP: rs149596527

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474659	SCV000544763	uncertain significance	Bardet-Biedl syndrome	2022-10-24	criteria provided, single submitter	clinical testing	This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 426 of the BBS10 protein (p.Lys426Glu). This variant is present in population databases (rs149596527, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with BBS10-related conditions. ClinVar contains an entry for this variant (Variation ID: 406220). 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 BBS10 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.
Fulgent Genetics, Fulgent Genetics	RCV001835808	SCV005629236	uncertain significance	Bardet-Biedl syndrome 10	2024-04-20	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001835808	SCV002091766	uncertain significance	Bardet-Biedl syndrome 10	2019-10-28	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902642	SCV004724331	likely benign	BBS10-related disorder	2020-01-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).