ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser)

dbSNP: rs1019584942
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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 RCV001234954 SCV001407616 uncertain significance Congenital myasthenic syndrome 4A 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 340 of the CHRNE protein (p.Pro340Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline 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. 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 RCV002504321 SCV002815173 uncertain significance Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2021-07-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834036 SCV002093399 uncertain significance Congenital myasthenic syndrome 2021-06-29 no assertion criteria provided clinical testing

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