ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1323C>T (p.Gly441=)

gnomAD frequency: 0.00001  dbSNP: rs758517310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546340 SCV000641246 uncertain significance Congenital myasthenic syndrome 4A 2021-08-24 criteria provided, single submitter clinical testing This sequence change affects codon 441 of the CHRNE mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CHRNE protein. This variant is present in population databases (rs758517310, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001834786 SCV002093373 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing

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