ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1092del (p.Glu365fs)

gnomAD frequency: 0.00003  dbSNP: rs770218590
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000675164 SCV000447409 pathogenic Bardet-Biedl syndrome 12 2024-04-24 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073939 SCV001239504 likely pathogenic Retinal dystrophy 2018-07-16 criteria provided, single submitter clinical testing
Invitae RCV001210623 SCV001382119 pathogenic Bardet-Biedl syndrome 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu365Argfs*18) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 346 amino acid(s) of the BBS12 protein. This variant is present in population databases (rs770218590, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 17160889, 27659767). ClinVar contains an entry for this variant (Variation ID: 347497). This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Arg675*) have been determined to be pathogenic (PMID: 20827784, 21642631). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000675164 SCV004211683 pathogenic Bardet-Biedl syndrome 12 2024-02-26 criteria provided, single submitter clinical testing
Counsyl RCV000675164 SCV000800781 pathogenic Bardet-Biedl syndrome 12 2017-08-08 no assertion criteria provided clinical testing
Natera, Inc. RCV000675164 SCV002082498 pathogenic Bardet-Biedl syndrome 12 2020-08-04 no assertion criteria provided clinical testing

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