ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.945G>A (p.Ala315=)

gnomAD frequency: 0.00009  dbSNP: rs145364830
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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 RCV000416081 SCV000493606 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TARDBP: BP4, BP7
Illumina Laboratory Services, Illumina RCV001096235 SCV001252432 likely benign Amyotrophic lateral sclerosis type 10 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV002058874 SCV002434386 likely benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2023-12-18 criteria provided, single submitter clinical testing

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