ClinVar Miner

Submissions for variant NM_012176.3(FBXO4):c.190A>G (p.Ile64Val)

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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 RCV004918913 SCV005580341 uncertain significance not specified 2024-10-04 criteria provided, single submitter clinical testing The c.190A>G (p.I64V) 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 190, causing the isoleucine (I) at amino acid position 64 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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