ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)

dbSNP: rs1553941369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674221 SCV000799522 likely pathogenic Bardet-Biedl syndrome 12 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV000800531 SCV000940252 pathogenic Bardet-Biedl syndrome 2021-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val337Cysfs*5) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 374 amino acid(s) of the BBS12 protein. 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.Arg355*) have been determined to be pathogenic (PMID: 17160889, 23591405). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 558010). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV000674221 SCV004211672 likely pathogenic Bardet-Biedl syndrome 12 2023-09-11 criteria provided, single submitter clinical testing

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