ClinVar Miner

Submissions for variant NM_012176.3(FBXO4):c.230A>G (p.His77Arg)

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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 RCV005341831 SCV006004726 uncertain significance not specified 2025-02-08 criteria provided, single submitter clinical testing The c.230A>G (p.H77R) alteration is located in exon 2 (coding exon 2) of the FBXO4 gene. This alteration results from a A to G substitution at nucleotide position 230, causing the histidine (H) at amino acid position 77 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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