ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.1135C>T (p.Arg379Trp)

gnomAD frequency: 0.00009  dbSNP: rs140977711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820386 SCV002071203 uncertain significance not specified 2019-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040983 SCV004972758 uncertain significance Inborn genetic diseases 2022-04-18 criteria provided, single submitter clinical testing The c.1135C>T (p.R379W) alteration is located in exon 5 (coding exon 5) of the TTI2 gene. This alteration results from a C to T substitution at nucleotide position 1135, causing the arginine (R) at amino acid position 379 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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