ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)

dbSNP: rs1281334523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535961 SCV001752622 pathogenic Bardet-Biedl syndrome 4 2021-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568924 SCV003223860 pathogenic Bardet-Biedl syndrome 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val440Lysfs*28) 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). 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 BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1179106). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001535961 SCV004214100 likely pathogenic Bardet-Biedl syndrome 4 2023-04-11 criteria provided, single submitter clinical testing

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