ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)

gnomAD frequency: 0.00003  dbSNP: rs185089786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627256 SCV000748248 pathogenic not provided 2022-01-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21258341)
Labcorp Genetics (formerly Invitae), Labcorp RCV001857364 SCV002231494 pathogenic Jeune thoracic dystrophy; Nephronophthisis 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg411*) 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 (rs185089786, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with Jeune asphyxiating thoracic dystrophy (PMID: 21258341). ClinVar contains an entry for this variant (Variation ID: 30938). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023927 SCV000045218 pathogenic Asphyxiating thoracic dystrophy 4 2011-03-01 no assertion criteria provided literature only

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