ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.215G>T (p.Gly72Val)

gnomAD frequency: 0.00003  dbSNP: rs774970585
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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 RCV003381106 SCV004091846 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.215G>T (p.G72V) alteration is located in exon 1 (coding exon 1) of the TTI2 gene. This alteration results from a G to T substitution at nucleotide position 215, causing the glycine (G) at amino acid position 72 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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