ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) (rs137852777)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468282 SCV000552794 pathogenic Juvenile myoclonic epilepsy 2017-07-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 210 of the EFHC1 protein (p.Asp210Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs137852777, ExAC 0.06%). This variant has been reported to segregate with juvenile myoclonic epilepsy in a single family (PMID: 15258581) and reported in several individuals affected with juvenile myoclonic epilepsy (PMID: 22717576, 18823326). ClinVar contains an entry for this variant (Variation ID: 2065). Experimental studies have shown that this missense change impairs apoptosis, alters calcium currents, alter the effects of EFHC1 on the function of calcium channel TRPM2, and results in mitotic spindle defects (PMID: 15258581, 22226147, 22926142). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002146 SCV000022304 risk factor Myoclonic epilepsy, juvenile 1 2004-08-01 no assertion criteria provided literature only

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