ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr) (rs201523118)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686226 SCV000813735 uncertain significance Rigidity and multifocal seizure syndrome, lethal neonatal 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 598 of the BRAT1 protein (p.His598Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs201523118, 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: 566421). 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: Benign; 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 RCV000710744 SCV000841042 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000710744 SCV001779162 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing

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