ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.215C>G (p.Thr72Arg)

dbSNP: rs1372121041
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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 RCV001986531 SCV002279799 uncertain significance Idiopathic generalized epilepsy 2022-06-20 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 72 of the RBFOX3 protein (p.Thr72Arg).
Ambry Genetics RCV004045343 SCV004069384 uncertain significance not specified 2023-06-21 criteria provided, single submitter clinical testing The c.215C>G (p.T72R) alteration is located in exon 4 (coding exon 1) of the RBFOX3 gene. This alteration results from a C to G substitution at nucleotide position 215, causing the threonine (T) at amino acid position 72 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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