Submissions for variant NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)

dbSNP: rs1963758780

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001244987	SCV001418246	pathogenic	Bardet-Biedl syndrome	2023-10-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr644*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Bardet-Biedl syndrome (PMID: 26078953, 28800606). ClinVar contains an entry for this variant (Variation ID: 969600). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV003462822	SCV004214053	likely pathogenic	Bardet-Biedl syndrome 2	2022-12-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005014300	SCV005643992	likely pathogenic	Bardet-Biedl syndrome 2; Retinitis pigmentosa 74	2024-03-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580087	SCV001809627	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001580087	SCV001924890	pathogenic	not provided		no assertion criteria provided	clinical testing