ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1169T>C (p.Ile390Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145864 SCV003829924 uncertain significance Deficiency of ferroxidase 2019-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004614410 SCV005111599 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.1169T>C (p.I390T) alteration is located in exon 6 (coding exon 6) of the CP gene. This alteration results from a T to C substitution at nucleotide position 1169, causing the isoleucine (I) at amino acid position 390 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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