ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro)

gnomAD frequency: 0.00019  dbSNP: rs568952207
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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 RCV000800011 SCV000939708 likely benign Congenital myasthenic syndrome 4A 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534625 SCV003722197 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.1169G>C (p.R390P) alteration is located in exon 10 (coding exon 10) of the CHRNE gene. This alteration results from a G to C substitution at nucleotide position 1169, causing the arginine (R) at amino acid position 390 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004783861 SCV005396930 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001274711 SCV001459091 uncertain significance Congenital myasthenic syndrome 2020-01-24 no assertion criteria provided clinical testing

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