ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala)

gnomAD frequency: 0.00001  dbSNP: rs765750690
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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 RCV003768962 SCV001223106 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2019-11-20 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is present in population databases (rs765750690, ExAC 0.009%). This sequence change replaces aspartic acid with alanine at codon 612 of the EFHC1 protein (p.Asp612Ala). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and alanine.

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