ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1144T>A (p.Leu382Met)

gnomAD frequency: 0.00002  dbSNP: rs147732750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681067 SCV000808520 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001316941 SCV001507582 uncertain significance RASopathy 2022-06-18 criteria provided, single submitter clinical testing 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. 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 expected to disrupt BRAF protein function. ClinVar contains an entry for this variant (Variation ID: 561706). This variant has not been reported in the literature in individuals affected with BRAF-related conditions. This variant is present in population databases (rs147732750, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 382 of the BRAF protein (p.Leu382Met).

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