ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=)

gnomAD frequency: 0.00004  dbSNP: rs147795017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713822 SCV000844459 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV002067008 SCV002385863 likely benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440566 SCV002751585 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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