ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)

gnomAD frequency: 0.00124  dbSNP: rs199821354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001496568 SCV001701267 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000634203 SCV002540315 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with TTC21B-related ciliopathy to our knowledge; This variant is associated with the following publications: (PMID: 33100332)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279455 SCV002567145 uncertain significance Connective tissue disorder 2022-04-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544823 SCV004784138 likely benign TTC21B-related disorder 2021-08-16 criteria provided, single submitter 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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