ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)

gnomAD frequency: 0.00016  dbSNP: rs142285373
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496626 SCV001701328 likely benign Familial infantile myasthenia 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563303 SCV003547210 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.2212A>G (p.K738E) alteration is located in exon 15 (coding exon 15) of the CHAT gene. This alteration results from a A to G substitution at nucleotide position 2212, causing the lysine (K) at amino acid position 738 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001496626 SCV003833222 uncertain significance Familial infantile myasthenia 2019-06-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706222 SCV005220714 likely benign not provided criteria provided, single submitter not provided

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