ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg)

gnomAD frequency: 0.00003  dbSNP: rs375652301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641739 SCV000763387 uncertain significance Congenital myasthenic syndrome 4A 2021-09-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 170 of the CHRNE protein (p.Thr170Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is present in population databases (rs375652301, ExAC 0.006%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
MGZ Medical Genetics Center RCV000641739 SCV002580522 uncertain significance Congenital myasthenic syndrome 4A 2021-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144416 SCV003833690 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835038 SCV002093427 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing

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