ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg)

dbSNP: rs1839799283
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304122 SCV001493391 uncertain significance Familial infantile myasthenia 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 480 of the CHAT protein (p.Pro480Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CHAT-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHAT protein function. 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.

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