ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1659del (p.Gln553fs)

dbSNP: rs1191668967
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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 RCV003524662 SCV004321517 pathogenic Bardet-Biedl syndrome 2024-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln553Hisfs*24) 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 present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. ClinVar contains an entry for this variant (Variation ID: 2758461). For these reasons, this variant has been classified as Pathogenic.

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