ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1942dup (p.Ser648fs)

dbSNP: rs2105324384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949593 SCV002238220 pathogenic Jeune thoracic dystrophy; Nephronophthisis 2022-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser648Phefs*5) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1458764). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions.

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