ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.123del (p.Gly42fs)

dbSNP: rs1272140892
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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 RCV000735933 SCV004641513 pathogenic Bardet-Biedl syndrome 2023-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly42Glufs*11) in the BBS5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS5 are known to be pathogenic (PMID: 15137946, 16877420, 26325687, 27708425, 28041643, 29806606). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16877420). ClinVar contains an entry for this variant (Variation ID: 585187).
Fulgent Genetics, Fulgent Genetics RCV005027880 SCV005654428 pathogenic Bardet-Biedl syndrome 5 2024-05-02 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735933 SCV000839570 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation
PreventionGenetics, part of Exact Sciences RCV004753002 SCV005354674 pathogenic BBS5-related disorder 2024-08-21 no assertion criteria provided clinical testing The BBS5 c.123delA variant is predicted to result in a frameshift and premature protein termination (p.Gly42Glufs*11). This variant has been reported in the homozygous state in individuals of a family with Bardet-Biedl syndrome (Smaoui et al. 2006. PubMed ID: 16877420). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in BBS5 are expected to be pathogenic. This variant is interpreted as pathogenic.

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