ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)

gnomAD frequency: 0.00002  dbSNP: rs747853975
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711203 SCV000841535 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534493 SCV003262656 uncertain significance Congenital myasthenic syndrome 4A 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 404 of the CHRNE protein (p.Thr404Ile). This variant is present in population databases (rs747853975, gnomAD 0.006%). 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: 585673). 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. 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.
Revvity Omics, Revvity RCV000711203 SCV003833683 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609504 SCV005106358 uncertain significance Inborn genetic diseases 2024-06-13 criteria provided, single submitter clinical testing The c.1211C>T (p.T404I) alteration is located in exon 10 (coding exon 10) of the CHRNE gene. This alteration results from a C to T substitution at nucleotide position 1211, causing the threonine (T) at amino acid position 404 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830574 SCV002093385 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing

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