ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.110C>T (p.Thr37Ile)

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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 RCV002659257 SCV002985519 uncertain significance Idiopathic generalized epilepsy 2023-04-19 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. ClinVar contains an entry for this variant (Variation ID: 1948988). This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 37 of the RBFOX3 protein (p.Thr37Ile).
Ambry Genetics RCV004066853 SCV003666847 uncertain significance not specified 2022-12-16 criteria provided, single submitter clinical testing The c.110C>T (p.T37I) 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 110, causing the threonine (T) at amino acid position 37 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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