ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.1042C>G (p.Pro348Ala)

gnomAD frequency: 0.00001  dbSNP: rs538050088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706071 SCV000835102 uncertain significance Idiopathic generalized epilepsy 2019-07-11 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RBFOX1-related disease. This variant is present in population databases (rs538050088, ExAC 0.01%). This sequence change replaces proline with alanine at codon 369 of the RBFOX1 protein (p.Pro369Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.
Ambry Genetics RCV003165917 SCV003893402 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.1105C>G (p.P369A) alteration is located in exon 12 (coding exon 12) of the RBFOX1 gene. This alteration results from a C to G substitution at nucleotide position 1105, causing the proline (P) at amino acid position 369 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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