ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.255del (p.Glu86fs)

dbSNP: rs2144193104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881251 SCV002137751 pathogenic Bardet-Biedl syndrome 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1378633). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu86Serfs*8) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167).
Baylor Genetics RCV003464199 SCV004214025 likely pathogenic Bardet-Biedl syndrome 2 2023-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016725 SCV005644087 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-03-12 criteria provided, single submitter clinical testing

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