ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.774del (p.Asn258fs)

dbSNP: rs777218224
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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 RCV001059813 SCV001224461 pathogenic Bardet-Biedl syndrome 2019-05-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BBS2-related conditions. This variant is present in population databases (rs777218224, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Asn258Lysfs*3) 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497438 SCV002778997 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-03-04 criteria provided, single submitter clinical testing

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