ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.125G>A (p.Arg42His)

gnomAD frequency: 0.00001  dbSNP: rs773598517
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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 RCV003766609 SCV000552797 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2019-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a EFHC1-related disease. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 also 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. This sequence change replaces arginine with histidine at codon 42 of the EFHC1 protein (p.Arg42His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine.

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