ClinVar Miner

Submissions for variant NM_153230.3(FBXO39):c.213T>G (p.His71Gln)

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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 RCV004618299 SCV005112870 uncertain significance not specified 2024-04-15 criteria provided, single submitter clinical testing The c.213T>G (p.H71Q) alteration is located in exon 2 (coding exon 1) of the FBXO39 gene. This alteration results from a T to G substitution at nucleotide position 213, causing the histidine (H) at amino acid position 71 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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