ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln)

dbSNP: rs767704811
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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 RCV000800502 SCV000940221 uncertain significance Absence seizure; Juvenile myoclonic epilepsy 2018-08-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 200 of the EFHC1 protein (p.Glu200Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EFHC1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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