ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1574G>A (p.Arg525His) (rs776730549)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203973 SCV000260745 likely pathogenic Bardet-Biedl syndrome 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 525 of the BBS12 protein (p.Arg525His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs776730549, ExAC 0.001%). This variant has been observed in individuals with BBS12-related disease (PMID: 20472660, 30614526). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this allele has been classified as Likely Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000499807 SCV000593598 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing
Counsyl RCV000668722 SCV000793369 uncertain significance Bardet-Biedl syndrome 12 2017-08-23 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000668722 SCV000803620 uncertain significance Bardet-Biedl syndrome 12 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Insufficient Evidence, for Bardet-Biedl syndrome 12, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium .
Laboratory of Medical Genetics, INSERM RCV000203973 SCV000839576 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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