ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2029G>A (p.Val677Met) (rs141726264)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650117 SCV000771954 uncertain significance Rigidity and multifocal seizure syndrome, lethal neonatal 2020-08-10 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 677 of the BRAT1 protein (p.Val677Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs141726264, ExAC 0.2%). This variant has not been reported in the literature in individuals with BRAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 540174). 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.
Athena Diagnostics Inc RCV000991585 SCV001143171 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing

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