ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) (rs1273181642)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665648 SCV000789802 pathogenic Bardet-Biedl syndrome 2 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV000796443 SCV000935957 pathogenic Bardet-Biedl syndrome 2019-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg189*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in several individuals affected with Bardet-Biedl syndrome (PMID: 28800606, 16877420, 23432027). ClinVar contains an entry for this variant (Variation ID: 550801). Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000796443 SCV001372323 pathogenic Bardet-Biedl syndrome 2020-06-22 criteria provided, single submitter clinical testing Variant summary: BBS2 c.565C>T (p.Arg189X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 251318 control chromosomes (gnomAD). c.565C>T has been reported in the literature in multiple homozygous individuals affected with Bardet-Biedl Syndrome (e.g. Castro-Sanchez_2017, Mhamdi_2014, Smaoui_2006). These data indicate that the variant is very likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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