ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)

dbSNP: rs928396576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703872 SCV000832796 uncertain significance Absence seizure; Juvenile myoclonic epilepsy 2018-03-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 55 of the EFHC1 protein (p.Asn55Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692184 SCV005189053 uncertain significance not provided criteria provided, single submitter not provided

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