ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1294dup (p.Glu432fs)

dbSNP: rs912967826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003021815 SCV003319319 pathogenic Bardet-Biedl syndrome 2022-02-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BBS4-related conditions. This sequence change creates a premature translational stop signal (p.Glu432Glyfs*10) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351).
Baylor Genetics RCV003459700 SCV004214078 likely pathogenic Bardet-Biedl syndrome 4 2023-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003459700 SCV005630910 likely pathogenic Bardet-Biedl syndrome 4 2024-04-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750249 SCV005343200 likely pathogenic BBS4-related disorder 2024-09-20 no assertion criteria provided clinical testing The BBS4 c.1294dupG variant is predicted to result in a frameshift and premature protein termination (p.Glu432Glyfs*10). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in BBS4 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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