Submissions for variant NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)

gnomAD frequency: 0.00003  dbSNP: rs750665609

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	RCV001267655	SCV001445877	pathogenic	Bardet-Biedl syndrome 10	2019-10-10	criteria provided, single submitter	clinical testing	This frameshifting variant in exon 1 of 2 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously reported as a compound heterozygous change in a patient with retinal disease, horseshoe kidney, and ureterocele (PMID: 27788217). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.9_14delinsC (p.Ser4Glyfs90) variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002537702	SCV003023592	uncertain significance	Bardet-Biedl syndrome	2023-11-27	criteria provided, single submitter	clinical testing	This variant, c.9_14del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the BBS10 protein (p.Ser3_Met5delinsArg). This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with BBS-related conditions (PMID: 24746959). ClinVar contains an entry for this variant (Variation ID: 986341). 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.