Submissions for variant NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)

dbSNP: rs878853352

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002519763	SCV002980659	pathogenic	Bardet-Biedl syndrome	2022-07-28	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of BBS7-related conditions (PMID: 27208204). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Ser571*) in the BBS7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS7 are known to be pathogenic (PMID: 12567324, 19402160, 21209035, 31196119).
Baylor Genetics	RCV003463625	SCV004214149	pathogenic	Bardet-Biedl syndrome 7	2023-08-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003463625	SCV005658481	pathogenic	Bardet-Biedl syndrome 7	2024-05-29	criteria provided, single submitter	clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	RCV000225449	SCV000282558	likely pathogenic	Retinal dystrophy		no assertion criteria provided	clinical testing