ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.411A>G (p.Lys137=)

gnomAD frequency: 0.00001  dbSNP: rs766028449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171751 SCV001334590 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV002559644 SCV003517982 likely benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2022-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953563 SCV004770752 likely benign TARDBP-related disorder 2019-03-22 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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