ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.35C>T (p.Pro12Leu)

dbSNP: rs1403085500
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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 RCV002018098 SCV002300610 uncertain significance Idiopathic generalized epilepsy 2023-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 12 of the RBFOX3 protein (p.Pro12Leu). 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: 1509704). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004046649 SCV003656219 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.35C>T (p.P12L) alteration is located in exon 4 (coding exon 1) of the RBFOX3 gene. This alteration results from a C to T substitution at nucleotide position 35, causing the proline (P) at amino acid position 12 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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