ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.504del (p.Leu168fs)

gnomAD frequency: 0.00001  dbSNP: rs1224014742
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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 RCV001205313 SCV001376561 pathogenic Bardet-Biedl syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu168Phefs*33) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20177705). ClinVar contains an entry for this variant (Variation ID: 936504). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462687 SCV004214043 pathogenic Bardet-Biedl syndrome 2 2023-03-23 criteria provided, single submitter clinical testing

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