ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.787A>C (p.Asn263His)

gnomAD frequency: 0.00001  dbSNP: rs749287999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235582 SCV001408273 uncertain significance Lafora disease 2019-09-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 263 of the NHLRC1 protein (p.Asn263His). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and histidine. 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 histidine 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 NHLRC1-related conditions. This variant is present in population databases (rs749287999, ExAC 0.01%).

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