ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)

gnomAD frequency: 0.00004  dbSNP: rs771232897
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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 RCV001993350 SCV002231119 pathogenic Jeune thoracic dystrophy; Nephronophthisis 2022-09-26 criteria provided, single submitter clinical testing 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: 1451834). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs771232897, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg58*) 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).
Fulgent Genetics, Fulgent Genetics RCV005025514 SCV005653393 likely pathogenic Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-02-22 criteria provided, single submitter clinical testing

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