Submissions for variant NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)

gnomAD frequency: 0.00004  dbSNP: rs144680278

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001239677	SCV001412569	uncertain significance	Bardet-Biedl syndrome	2022-07-19	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 141 of the BBS2 protein (p.Asn141Ser). This variant is present in population databases (rs144680278, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 965274). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Genome-Nilou Lab	RCV001559167	SCV001781257	uncertain significance	Bardet-Biedl syndrome 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001559168	SCV001781258	uncertain significance	Retinitis pigmentosa 74	2021-07-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491788	SCV002778000	uncertain significance	Bardet-Biedl syndrome 2; Retinitis pigmentosa 74	2024-03-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004692290	SCV005194401	uncertain significance	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001559167	SCV002089305	uncertain significance	Bardet-Biedl syndrome 2	2020-01-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004545144	SCV004775755	likely benign	BBS2-related disorder	2022-01-03	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).