ClinVar Miner

Submissions for variant NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)

gnomAD frequency: 0.00001  dbSNP: rs143800051
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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 RCV001220348 SCV001392331 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2019-07-22 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CHMP2B-related conditions. This variant is present in population databases (rs143800051, ExAC 0.01%). This sequence change replaces lysine with arginine at codon 59 of the CHMP2B protein (p.Lys59Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine.

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