ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.700C>A (p.Gln234Lys)

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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 RCV004969579 SCV005525473 uncertain significance Inborn genetic diseases 2024-11-14 criteria provided, single submitter clinical testing The c.700C>A (p.Q234K) alteration is located in exon 2 (coding exon 2) of the TTI2 gene. This alteration results from a C to A substitution at nucleotide position 700, causing the glutamine (Q) at amino acid position 234 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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