Submissions for variant NM_024649.5(BBS1):c.1110+3G>C

dbSNP: rs762276925

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000787532	SCV002240831	pathogenic	Bardet-Biedl syndrome	2023-02-18	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in the activation of a cryptic splice site in exon 11 (PMID: 18669544). ClinVar contains an entry for this variant (Variation ID: 635996). This variant is also known as 1091+3G>C. This variant has been observed in individual(s) with Bardet–Biedl syndrome (PMID: 18669544). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 11 of the BBS1 gene. It does not directly change the encoded amino acid sequence of the BBS1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the loss of 16 amino acid residue(s), but is expected to preserve the integrity of the reading-frame.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787532	SCV000926501	likely pathogenic	Bardet-Biedl syndrome	2018-04-01	no assertion criteria provided	research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787786	SCV000926795	likely pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research