ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208497 SCV001379888 uncertain significance Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2019-10-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 378 of the TARDBP protein (p.Asn378Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with amyotrophic lateral sclerosis (PMID: 20031275, 20472325, 28430856). This variant has been reported to have conflicting or insufficient data to determine the effect on TARDBP protein function (PMID: 23235148). 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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