ClinVar Miner

Submissions for variant NM_153230.3(FBXO39):c.151T>C (p.Tyr51His)

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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 RCV005341820 SCV006004714 uncertain significance not specified 2024-12-21 criteria provided, single submitter clinical testing The c.151T>C (p.Y51H) alteration is located in exon 2 (coding exon 1) of the FBXO39 gene. This alteration results from a T to C substitution at nucleotide position 151, causing the tyrosine (Y) at amino acid position 51 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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