ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820317 SCV000961025 uncertain significance Lafora disease 2018-09-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 157 of the NHLRC1 protein (p.Gly157Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs781300542, ExAC 0.02%). This variant has not been reported in the literature in individuals with NHLRC1-related disease. 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 glutamic acid 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. 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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