ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.1166T>C (p.Ile389Thr)

gnomAD frequency: 0.00001  dbSNP: rs772232196
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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 RCV002986328 SCV003704012 uncertain significance Inborn genetic diseases 2021-04-09 criteria provided, single submitter clinical testing The c.1166T>C (p.I389T) alteration is located in exon 5 (coding exon 5) of the TTI2 gene. This alteration results from a T to C substitution at nucleotide position 1166, causing the isoleucine (I) at amino acid position 389 to be replaced by a threonine (T). The p.I389T alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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