ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter)

gnomAD frequency: 0.00002  dbSNP: rs1725385758
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000219 SCV002234023 pathogenic Bardet-Biedl syndrome 2023-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg504*) 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. ClinVar contains an entry for this variant (Variation ID: 1453288). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004744177 SCV005354743 likely pathogenic BBS7-related disorder 2024-09-03 no assertion criteria provided clinical testing The BBS7 c.1510A>T variant is predicted to result in premature protein termination (p.Arg504*). To our knowledge, this variant has not been reported in the literature or a large population database, indicating it is rare. Nonsense variants in BBS7 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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