ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.345C>T (p.Asp115=)

gnomAD frequency: 0.00005  dbSNP: rs781668575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443535 SCV001646510 likely benign Herpes simplex encephalitis, susceptibility to, 4 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426100 SCV004146320 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TICAM1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003965863 SCV004783923 likely benign TICAM1-related disorder 2020-06-12 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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