ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)

dbSNP: rs2150737598
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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 RCV001383445 SCV001582593 pathogenic Bardet-Biedl syndrome 2022-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu555Ilefs*15) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 156 amino acid(s) of the BBS12 protein. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Asp687Valfs*3) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1071069). This variant has not been reported in the literature in individuals affected with BBS12-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002488203 SCV002788688 likely pathogenic Bardet-Biedl syndrome 12 2021-08-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV002488203 SCV004211705 pathogenic Bardet-Biedl syndrome 12 2023-02-27 criteria provided, single submitter clinical testing

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