ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.494T>C (p.Ile165Thr)

gnomAD frequency: 0.00014  dbSNP: rs148155075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001422446 SCV001624996 likely benign Familial infantile myasthenia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284314 SCV003958549 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.494T>C (p.I165T) alteration is located in exon 3 (coding exon 3) of the CHAT gene. This alteration results from a T to C substitution at nucleotide position 494, causing the isoleucine (I) at amino acid position 165 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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