ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.*697G>A

dbSNP: rs387906334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000005550 SCV001256258 uncertain significance Amyotrophic lateral sclerosis type 10 2017-08-17 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002512811 SCV003517161 uncertain significance Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2022-08-17 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with TARDBP-related conditions (PMID: 19618195). This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the TARDBP gene. It does not change the encoded amino acid sequence of the TARDBP protein. This variant is also known as 2076G>A. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 5239).
OMIM RCV000005550 SCV000025732 pathogenic Amyotrophic lateral sclerosis type 10 2009-11-01 no assertion criteria provided literature only
OMIM RCV000005551 SCV000053451 pathogenic FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED 2009-11-01 no assertion criteria provided literature only

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