ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.257C>T (p.Pro86Leu)

gnomAD frequency: 0.00007  dbSNP: rs377660420
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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 RCV000465340 SCV000552221 uncertain significance Idiopathic generalized epilepsy 2023-07-09 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 not expected to disrupt RBFOX3 protein function. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 86 of the RBFOX3 protein (p.Pro86Leu). This variant is present in population databases (rs377660420, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. ClinVar contains an entry for this variant (Variation ID: 411177).
Ambry Genetics RCV004022865 SCV004937989 uncertain significance not specified 2023-10-17 criteria provided, single submitter clinical testing The c.257C>T (p.P86L) alteration is located in exon 5 (coding exon 2) of the RBFOX3 gene. This alteration results from a C to T substitution at nucleotide position 257, causing the proline (P) at amino acid position 86 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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