ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.985A>G (p.Lys329Glu)

gnomAD frequency: 0.00001  dbSNP: rs770130398
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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 RCV002753269 SCV003740334 uncertain significance Inborn genetic diseases 2025-02-22 criteria provided, single submitter clinical testing The c.985A>G (p.K329E) alteration is located in exon 4 (coding exon 4) of the TTI2 gene. This alteration results from a A to G substitution at nucleotide position 985, causing the lysine (K) at amino acid position 329 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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