ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro)

gnomAD frequency: 0.00009  dbSNP: rs749376467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002493238 SCV000833599 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2018-04-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 590 of the EFHC1 protein (p.Ala590Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs749376467, ExAC 0.003%). 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 (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. 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.
Fulgent Genetics, Fulgent Genetics RCV002493238 SCV002800802 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-10-07 criteria provided, single submitter clinical testing

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