ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr)

gnomAD frequency: 0.00056  dbSNP: rs115877658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695594 SCV000824104 likely benign Familial infantile myasthenia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532311 SCV003683974 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.1174G>A (p.A392T) alteration is located in exon 8 (coding exon 8) of the CHAT gene. This alteration results from a G to A substitution at nucleotide position 1174, causing the alanine (A) at amino acid position 392 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000695594 SCV003833236 uncertain significance Familial infantile myasthenia 2022-12-21 criteria provided, single submitter clinical testing

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