ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.437del (p.Gly146fs)

dbSNP: rs1170844318
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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 RCV001383660 SCV001582880 pathogenic Bardet-Biedl syndrome 2020-06-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BBS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly146Valfs*55) in the BBS2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV002307740 SCV002604596 likely pathogenic Bardet-Biedl syndrome 2 2022-04-05 criteria provided, single submitter clinical testing NM_031885.3(BBS2):c.437delG(G146Vfs*55) is expected to be pathogenic in the context of Bardet-Biedl syndrome, BBS2-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BBS2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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