ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr)

dbSNP: rs1765633745
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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 RCV003770600 SCV001496695 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-04-29 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 540 of the EFHC1 protein (p.Ala540Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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