ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1402G>A (p.Val468Met)

dbSNP: rs139171143
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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 RCV000641742 SCV000763390 likely benign Congenital myasthenic syndrome 4A 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530006 SCV003703720 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.1402G>A (p.V468M) alteration is located in exon 12 (coding exon 12) of the CHRNE gene. This alteration results from a G to A substitution at nucleotide position 1402, causing the valine (V) at amino acid position 468 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144418 SCV003830631 uncertain significance not provided 2019-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274707 SCV001459086 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing

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