ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys)

gnomAD frequency: 0.00001  dbSNP: rs577641512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244112 SCV001417311 uncertain significance Congenital myasthenic syndrome 4A 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 216 of the CHRNE protein (p.Arg216Cys). This variant is present in population databases (rs577641512, gnomAD 0.009%). 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: 968877). 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.
Ambry Genetics RCV003263887 SCV003944665 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.646C>T (p.R216C) alteration is located in exon 7 (coding exon 7) of the CHRNE gene. This alteration results from a C to T substitution at nucleotide position 646, causing the arginine (R) at amino acid position 216 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835195 SCV002093420 uncertain significance Congenital myasthenic syndrome 2020-06-06 no assertion criteria provided clinical testing

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