ClinVar Miner

Submissions for variant NM_005546.4(ITK):c.810A>G (p.Ala270=)

gnomAD frequency: 0.00001  dbSNP: rs750585884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262013 SCV002543513 uncertain significance Autoinflammatory syndrome 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV003514546 SCV004327184 likely benign Lymphoproliferative syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896095 SCV004715284 likely benign ITK-related disorder 2021-02-09 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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