ClinVar Miner

Submissions for variant NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr)

gnomAD frequency: 0.00009  dbSNP: rs147525462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634972 SCV000756350 uncertain significance Idiopathic generalized epilepsy 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 28 of the RBFOX1 protein (p.Ile28Thr). This variant is present in population databases (rs147525462, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 529516). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV003303002 SCV004004867 uncertain significance Inborn genetic diseases 2023-03-21 criteria provided, single submitter clinical testing The c.83T>C (p.I28T) alteration is located in exon 2 (coding exon 2) of the RBFOX1 gene. This alteration results from a T to C substitution at nucleotide position 83, causing the isoleucine (I) at amino acid position 28 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691976 SCV005194205 uncertain significance not provided criteria provided, single submitter not provided

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