ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)

dbSNP: rs878853352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002519763 SCV002980659 pathogenic Bardet-Biedl syndrome 2022-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser571*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with clinical features of BBS7-related conditions (PMID: 27208204). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003463625 SCV004214149 pathogenic Bardet-Biedl syndrome 7 2023-08-21 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225449 SCV000282558 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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