ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1320del (p.Phe440fs)

dbSNP: rs775836730
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074968 SCV001240575 likely pathogenic Retinal dystrophy 2017-09-22 criteria provided, single submitter clinical testing
Invitae RCV001851419 SCV002234176 pathogenic Jeune thoracic dystrophy; Nephronophthisis 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe440Leufs*4) 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 (rs775836730, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with short-rib polydactyly syndrome type IV (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446650). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496988 SCV002806462 pathogenic Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-18 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV000516032 SCV000612064 pathogenic Type IV short rib polydactyly syndrome 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516032 SCV001480012 likely pathogenic Type IV short rib polydactyly syndrome no assertion criteria provided research

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