ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu) (rs201045158)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687672 SCV000815256 uncertain significance Rigidity and multifocal seizure syndrome, lethal neonatal 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 780 of the BRAT1 protein (p.Asp780Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs201045158, ExAC 0.02%). This variant has not been reported in the literature in individuals with BRAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 567552). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001545825 SCV001765231 uncertain significance not provided 2020-06-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251687 SCV001427427 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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