Submissions for variant NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs)

gnomAD frequency: 0.00003  dbSNP: rs1210114050

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001937415	SCV002133461	uncertain significance	not provided	2022-08-03	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 1364265). This variant has not been reported in the literature in individuals affected with BBIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change results in a frameshift in the BBIP1 gene (p.Glu84Glyfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the BBIP1 protein and extend the protein by 5 additional amino acid residues. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics	RCV002490013	SCV002783969	uncertain significance	Bardet-Biedl syndrome 18	2022-05-05	criteria provided, single submitter	clinical testing