ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1122dup (p.Ile375fs)

dbSNP: rs753604828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672113 SCV000797179 likely pathogenic Bardet-Biedl syndrome 10 2018-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000672113 SCV002798272 likely pathogenic Bardet-Biedl syndrome 10 2021-12-05 criteria provided, single submitter clinical testing
Invitae RCV002531305 SCV003283785 pathogenic Bardet-Biedl syndrome 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Val707*) have been determined to be pathogenic (PMID: 20472660, 22773737, 25982971, 27486776). 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: 556154). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (Invitae). This variant is present in population databases (rs753604828, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile375Tyrfs*3) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 349 amino acid(s) of the BBS10 protein.

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