ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1390G>A (p.Val464Met)

gnomAD frequency: 0.00004  dbSNP: rs771016534
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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 RCV001365155 SCV001561408 uncertain significance Congenital myasthenic syndrome 4A 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 464 of the CHRNE protein (p.Val464Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs771016534, ExAC 0.04%). 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: "Tolerated"; 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.
Revvity Omics, Revvity RCV003145625 SCV003830599 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831255 SCV002093369 uncertain significance Congenital myasthenic syndrome 2020-04-29 no assertion criteria provided clinical testing

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