ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1891G>T (p.Glu631Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005121521 SCV005746350 pathogenic Bardet-Biedl syndrome 2024-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu631*) in the BBS7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS7 are known to be pathogenic (PMID: 12567324, 19402160, 21209035, 31196119). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. For these reasons, this variant has been classified as Pathogenic.

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