Submissions for variant NM_152384.3(BBS5):c.620G>A (p.Arg207His)

gnomAD frequency: 0.00625  dbSNP: rs35487251

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082651	SCV000114693	benign	not specified	2013-10-25	criteria provided, single submitter	clinical testing
Invitae	RCV000230046	SCV000291519	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082651	SCV000316160	benign	not specified		criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082651	SCV002067924	benign	not specified	2018-07-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000082651	SCV002104096	benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing	Variant summary: BBS5 c.620G>A (p.Arg207His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0066 in 250580 control chromosomes in the gnomAD database, including 11 homozygotes. The observed variant frequency is approximately 10 fold of the estimated maximal expected allele frequency for a pathogenic variant in BBS5 causing Bardet-Biedl Syndrome phenotype (0.00062), strongly suggesting that the variant is benign. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV001699119	SCV004147296	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	BBS5: BP4, BS2
Clinical Genetics, Academic Medical Center	RCV000082651	SCV001920343	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699119	SCV001926634	likely benign	not provided		no assertion criteria provided	clinical testing