ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.252G>C (p.Gln84His)

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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 RCV004969576 SCV005525469 uncertain significance Inborn genetic diseases 2024-08-02 criteria provided, single submitter clinical testing The c.252G>C (p.Q84H) alteration is located in exon 1 (coding exon 1) of the TTI2 gene. This alteration results from a G to C substitution at nucleotide position 252, causing the glutamine (Q) at amino acid position 84 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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