ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.847C>G (p.Pro283Ala)

gnomAD frequency: 0.00002  dbSNP: rs1326545990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002823871 SCV003195457 uncertain significance Familial infantile myasthenia 2022-05-20 criteria provided, single submitter clinical testing 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with CHAT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 283 of the CHAT protein (p.Pro283Ala).

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