ClinVar Miner

Submissions for variant NM_153230.3(FBXO39):c.338G>A (p.Arg113Gln)

gnomAD frequency: 0.00003  dbSNP: rs763737793
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004265145 SCV003892567 uncertain significance not specified 2023-01-18 criteria provided, single submitter clinical testing The c.338G>A (p.R113Q) alteration is located in exon 2 (coding exon 1) of the FBXO39 gene. This alteration results from a G to A substitution at nucleotide position 338, causing the arginine (R) at amino acid position 113 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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