ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.264_267dupTAGA

dbSNP: rs748514860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536012 SCV001752692 pathogenic Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771653 SCV004569694 pathogenic Jeune thoracic dystrophy; Nephronophthisis 2023-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu90*) in the TTC21B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC21B are known to be pathogenic (PMID: 18327258, 21068128, 21258341, 23559409, 24876116, 25492405, 27491411, 29068549). This variant is present in population databases (rs748514860, gnomAD 0.08%). This premature translational stop signal has been observed in individual(s) with TTC21B-related conditions (PMID: 23559409, 25492405, 36263627). ClinVar contains an entry for this variant (Variation ID: 1179137). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Department of Pediatrics, National Cheng-Kung University Hospital RCV003339667 SCV004046853 uncertain significance Bardet-Biedl syndrome 2 no assertion criteria provided clinical testing

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