ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1480A>T (p.Ile494Phe)

gnomAD frequency: 0.00001  dbSNP: rs539902160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547328 SCV000652230 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-08-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 472944). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant is present in population databases (rs539902160, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 494 of the BRAT1 protein (p.Ile494Phe).
Ambry Genetics RCV004965564 SCV005548511 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.1480A>T (p.I494F) alteration is located in exon 11 (coding exon 10) of the BRAT1 gene. This alteration results from a A to T substitution at nucleotide position 1480, causing the isoleucine (I) at amino acid position 494 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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