ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1472G>C (p.Gly491Ala)

gnomAD frequency: 0.00002  dbSNP: rs762040027
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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 RCV000650110 SCV000771947 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 491 of the BRAT1 protein (p.Gly491Ala). This variant is present in population databases (rs762040027, gnomAD 0.03%). 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: 540167). 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. 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 RCV002508243 SCV002817933 uncertain significance not provided 2024-07-05 criteria provided, single submitter clinical testing In silico analysis indicates 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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