ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)

dbSNP: rs752226476
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000366142 SCV000336880 uncertain significance not provided 2015-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539726 SCV000641237 uncertain significance Congenital myasthenic syndrome 4A 2022-09-13 criteria provided, single submitter clinical testing This variant, c.1077_1079dup, results in the insertion of 1 amino acid(s) of the CHRNE protein (p.Pro360dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752226476, gnomAD 0.1%). 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: 465852). 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.
Fulgent Genetics, Fulgent Genetics RCV002497128 SCV002804979 uncertain significance Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2021-07-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000366142 SCV003830636 uncertain significance not provided 2019-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000366142 SCV005384434 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing In-frame insertion of 1 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001276701 SCV001463210 uncertain significance Congenital myasthenic syndrome 2020-01-17 no assertion criteria provided clinical testing

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