ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)

gnomAD frequency: 0.00013  dbSNP: rs527295360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187358 SCV000240943 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing The R353W missense change was previously reported in three members of an Italian family, two of whom had classic juvenile myoclonic epilepsy and the other had idiopathic generalized epilepsy with grand mal tonic- clonic seizures (Annesi et al., 2007). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R353W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, it alters a poorly conserved position in the second DM10 domain of the EFHC1 gene and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The variant is found in EPILEPSY,CHILD-EPI panel(s).
Invitae RCV001836748 SCV000640919 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2023-10-03 criteria provided, single submitter clinical testing
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research RCV001808466 SCV002059213 benign Seizure 2022-01-02 criteria provided, single submitter research ACMG/AMP criteria: PP3, BP6, BS1, BS4
New York Genome Center RCV001836748 SCV002097681 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-06-12 criteria provided, single submitter clinical testing

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