ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.814C>T (p.Arg272Ter) (rs764164384)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667444 SCV000791889 pathogenic Bardet-Biedl syndrome 2 2017-05-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000667444 SCV000918640 pathogenic Bardet-Biedl syndrome 2 2017-09-08 criteria provided, single submitter clinical testing Variant summary: The BBS2 c.814C>T (p.Arg272X) variant results in a premature termination codon, predicted to cause a truncated or absent BBS2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position, c.823C>T (p.Arg275X) has been classified as pathogenic by our laboratory. This variant was found in 3/246118 control chromosomes at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic BBS2 variant (0.0008452). Multiple publications have cited the variant in homozygous affected individuals. The variant of interest has not, to our knowledge, been cited and classified by clinical diagnostic laboratories. Taken together, this variant is classified as pathogenic.
Invitae RCV000808886 SCV000949015 pathogenic Bardet-Biedl syndrome 2018-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg272*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764164384, ExAC 0.002%). This variant has been observed in an individual affected with Bardet-Biedl syndrome (PMID: 11285252). Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic.

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