ClinVar Miner

Submissions for variant NM_007375.3(TARDBP):c.1150G>C (p.Gly384Arg) (rs797044594)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713823 SCV000844460 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV000795453 SCV000934917 uncertain significance Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2018-07-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 384 of the TARDBP protein (p.Gly384Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with amyotrophic lateral sclerosis and to segregate with disease in an affected family (PMID: 20577002, 20031275, 21438137). ClinVar contains an entry for this variant (Variation ID: 190399). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
GeneReviews RCV000192195 SCV000223100 pathogenic Amyotrophic lateral sclerosis type 10 2015-03-12 no assertion criteria provided literature only Limited evidence of segregation.

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