ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) (rs193922710)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029406 SCV000052054 likely pathogenic Bardet-Biedl syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Counsyl RCV000672755 SCV000797893 likely pathogenic Bardet-Biedl syndrome 2 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV000029406 SCV001399563 pathogenic Bardet-Biedl syndrome 2019-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg339*) 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 in individuals affected with Bardet-Biedl syndrome (PMID: 27894351, 28387813). ClinVar contains an entry for this variant (Variation ID: 35754). 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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