ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=)

gnomAD frequency: 0.00001  dbSNP: rs762837601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760605 SCV001990320 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001882878 SCV002293631 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734258 SCV005362753 likely benign TTC21B-related disorder 2024-08-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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