ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1834G>C (p.Asp612His)

gnomAD frequency: 0.00001  dbSNP: rs1331948538
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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 RCV003772916 SCV002221509 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-11-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 612 of the EFHC1 protein (p.Asp612His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). 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"). This variant has not been reported in the literature in individuals with EFHC1-related conditions.

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