Submissions for variant NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)

gnomAD frequency: 0.00014  dbSNP: rs149042169

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001161657	SCV001323550	uncertain significance	Bardet-Biedl syndrome 9	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001337362	SCV001530960	uncertain significance	Bardet-Biedl syndrome	2022-10-24	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 587 of the BBS9 protein (p.Arg587Gln). This variant is present in population databases (rs149042169, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with BBS9-related conditions. ClinVar contains an entry for this variant (Variation ID: 910082). 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 BBS9 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001732056	SCV001983719	uncertain significance	not specified	2021-09-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001161657	SCV002791162	uncertain significance	Bardet-Biedl syndrome 9	2024-04-29	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005359888	SCV005917548	uncertain significance	BBS9-related ciliopathy	2021-10-27	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003413963	SCV004106405	likely benign	BBS9-related disorder	2024-05-24	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).