Submissions for variant NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)

gnomAD frequency: 0.00019  dbSNP: rs148325203

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000353305	SCV000347116	likely benign	Frontotemporal dementia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392664	SCV000347117	likely benign	Amyotrophic Lateral Sclerosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000518153	SCV000615747	benign	not specified	2017-02-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000875373	SCV001017688	benign	Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia	2023-08-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096237	SCV001252434	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV002450837	SCV002736683	likely benign	Inborn genetic diseases	2022-06-14	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.
CeGaT Center for Human Genetics Tuebingen	RCV003422211	SCV004128406	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	TARDBP: BS1, BS2