ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.710G>A (p.Arg237His)

dbSNP: rs201434993
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688625 SCV000816246 uncertain significance Congenital myasthenic syndrome 4A 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 237 of the CHRNE protein (p.Arg237His). This variant is present in population databases (rs201434993, gnomAD 0.03%). 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: 568308). 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.
Illumina Laboratory Services, Illumina RCV001122401 SCV001281115 uncertain significance Congenital myasthenic syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002485621 SCV002791669 uncertain significance Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2022-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544820 SCV003560362 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.710G>A (p.R237H) alteration is located in exon 7 (coding exon 7) of the CHRNE gene. This alteration results from a G to A substitution at nucleotide position 710, causing the arginine (R) at amino acid position 237 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144495 SCV003833687 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001122401 SCV002093417 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing

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