Submissions for variant NM_024649.5(BBS1):c.329C>A (p.Pro110His)

gnomAD frequency: 0.00002  dbSNP: rs750288768

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425171	SCV000522143	uncertain significance	not provided	2015-12-08	criteria provided, single submitter	clinical testing	The P110H variant in the BBS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P110H variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P110H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P110H as a variant of uncertain significance.
Dept Of Ophthalmology, Nagoya University	RCV003889888	SCV004707601	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV001833533	SCV002094722	uncertain significance	Bardet-Biedl syndrome 1	2020-02-25	no assertion criteria provided	clinical testing