Submissions for variant NM_024649.5(BBS1):c.616T>G (p.Leu206Val)

gnomAD frequency: 0.00066  dbSNP: rs146052054

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455067	SCV000538394	uncertain significance	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 0.07% in European with 1 homozygote, not in ClinVar. DM? in HGMD. OB 8/24/15: Has been reported in 1 patient with BBS who had 2 other variants in BBS1 (Janssen 2011). Agree that it is VUS4.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081824	SCV000563594	likely benign	Bardet-Biedl syndrome	2025-01-06	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726642	SCV000701906	uncertain significance	not provided	2016-10-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107785	SCV001264963	uncertain significance	Bardet-Biedl syndrome 1	2017-11-19	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago	RCV000455067	SCV002066227	uncertain significance	not specified	2018-09-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902629	SCV004720845	likely benign	BBS1-related disorder	2024-08-13	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).