ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly)

gnomAD frequency: 0.00002  dbSNP: rs756563341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273526 SCV000336695 uncertain significance not provided 2015-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765615 SCV000939663 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-10-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. 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 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"). ClinVar contains an entry for this variant (Variation ID: 284178). This variant is present in population databases (rs756563341, gnomAD 0.005%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 427 of the EFHC1 protein (p.Glu427Gly).

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