ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn)

gnomAD frequency: 0.00143  dbSNP: rs148525631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875255 SCV001017550 benign Familial infantile myasthenia 2024-01-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000875255 SCV003831681 uncertain significance Familial infantile myasthenia 2019-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027859 SCV004923459 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.1391G>A (p.S464N) alteration is located in exon 10 (coding exon 10) of the CHAT gene. This alteration results from a G to A substitution at nucleotide position 1391, causing the serine (S) at amino acid position 464 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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