ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)

gnomAD frequency: 0.00001  dbSNP: rs151275562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234439 SCV001407085 pathogenic Bardet-Biedl syndrome 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg280*) 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 (rs151275562, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21209035). ClinVar contains an entry for this variant (Variation ID: 960839). For these reasons, this variant has been classified as Pathogenic.
3billion RCV001810000 SCV002059051 pathogenic Bardet-Biedl syndrome 7 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000016, PM2_M). The variant has been reported to be associated with BBS7 related disorder (ClinVar ID: VCV000960839, PMID:21209035). Patient’s phenotype is considered compatible with BBS7-related disorder (PP4_P). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV001810000 SCV002809716 likely pathogenic Bardet-Biedl syndrome 7 2021-07-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001810000 SCV004214127 pathogenic Bardet-Biedl syndrome 7 2023-10-30 criteria provided, single submitter clinical testing

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