ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.872T>C (p.Ile291Thr)

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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 RCV004684647 SCV005174239 uncertain significance Inborn genetic diseases 2024-05-23 criteria provided, single submitter clinical testing The c.872T>C (p.I291T) alteration is located in exon 2 (coding exon 1) of the TRIM32 gene. This alteration results from a T to C substitution at nucleotide position 872, causing the isoleucine (I) at amino acid position 291 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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