ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) (rs147030232)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411465 SCV000486380 likely pathogenic Bardet-Biedl syndrome 2 2016-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762966 SCV000893407 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2018-10-31 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000411465 SCV001156386 pathogenic Bardet-Biedl syndrome 2 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV001069542 SCV001234716 pathogenic Bardet-Biedl syndrome 2019-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg413*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs147030232, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another BBS2 variant in individuals affected with Bardet-Biedl syndrome (PMID: 12920096, 29588463, 21642631). ClinVar contains an entry for this variant (Variation ID: 370943). 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 RCV001069542 SCV001361413 pathogenic Bardet-Biedl syndrome 2019-08-30 criteria provided, single submitter clinical testing Variant summary: BBS2 c.1237C>T (p.Arg413X) 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. The variant allele was found at a frequency of 2e-05 in 251474 control chromosomes (gnomAD). c.1237C>T has been reported in the literature (including homozygous occurrences) in multiple individuals and families affected with Bardet-Biedl Syndrome (e.g. Fauser_2003, Chen_2011, Sanchez-Navarro_2018, Liu_2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic (1x) or likely pathogenic (1x). Based on the evidence outlined above, the variant was classified as pathogenic.

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