ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)

gnomAD frequency: 0.00002  dbSNP: rs202239983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002770144 SCV003021613 pathogenic Jeune thoracic dystrophy; Nephronophthisis 2024-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1044*) 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 (rs202239983, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1983220). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005019381 SCV005651224 likely pathogenic Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-02-26 criteria provided, single submitter clinical testing

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