ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg)

gnomAD frequency: 0.00002  dbSNP: rs747017964
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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 RCV000703529 SCV000832432 uncertain significance Congenital myasthenic syndrome 4A 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 330 of the CHRNE protein (p.Gln330Arg). This variant is present in population databases (rs747017964, 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: 580087). 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 RCV002533688 SCV003734848 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.989A>G (p.Q330R) alteration is located in exon 9 (coding exon 9) of the CHRNE gene. This alteration results from a A to G substitution at nucleotide position 989, causing the glutamine (Q) at amino acid position 330 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835929 SCV002093403 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing

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