Submissions for variant NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser)

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Minimum conflict level: Report conflict between different conditions
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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	RCV000794612	SCV000934031	uncertain significance	Congenital myasthenic syndrome 4A	2021-08-28	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with serine at codon 306 of the CHRNE protein (p.Arg306Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.	RCV001271738	SCV001453131	uncertain significance	Congenital myasthenic syndrome	2020-09-16	no assertion criteria provided	clinical testing

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