ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1804G>A (p.Val602Ile)

gnomAD frequency: 0.00003  dbSNP: rs532881368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650121 SCV000771958 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 602 of the BRAT1 protein (p.Val602Ile). This variant is present in population databases (rs532881368, gnomAD 0.04%). 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: 540177). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRAT1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002531950 SCV003680204 uncertain significance Inborn genetic diseases 2021-07-02 criteria provided, single submitter clinical testing The c.1804G>A (p.V602I) alteration is located in exon 14 (coding exon 13) of the BRAT1 gene. This alteration results from a G to A substitution at nucleotide position 1804, causing the valine (V) at amino acid position 602 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003128679 SCV003805372 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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