ClinVar Miner

Submissions for variant NM_007375.3(TARDBP):c.931A>G (p.Met311Val) (rs80356725)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694078 SCV000822505 uncertain significance Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2018-05-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 311 of the TARDBP protein (p.Met311Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with familial amyotrophic lateral sclerosis (PMID: 19228676). Experimental studies have shown that this missense change promoted tau mRNA instability and suppressed tau expression.(PMID: 28335005). 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.

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