ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)

gnomAD frequency: 0.00001  dbSNP: rs779134983
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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 RCV001382361 SCV001581098 pathogenic Jeune thoracic dystrophy; Nephronophthisis 2024-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln516*) 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 (rs779134983, gnomAD 0.009%). 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: 1070283). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002493924 SCV002785254 likely pathogenic Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2023-12-26 criteria provided, single submitter clinical testing

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