ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe)

gnomAD frequency: 0.00002  dbSNP: rs746521766
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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 RCV001240221 SCV001413147 uncertain significance Congenital myasthenic syndrome 4A 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 6 of the CHRNE protein (p.Leu6Phe). This variant is present in population databases (rs746521766, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 965708). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHRNE protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Athena Diagnostics RCV001664775 SCV001879840 uncertain significance not provided 2020-09-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001664775 SCV003830630 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834116 SCV002087540 uncertain significance Congenital myasthenic syndrome 2020-03-13 no assertion criteria provided clinical testing

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