ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)

gnomAD frequency: 0.00008  dbSNP: rs377732929
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187359 SCV000240944 uncertain significance not provided 2013-05-07 criteria provided, single submitter clinical testing p.Arg353Gln (CGG>CAG): c.1058 G>A in exon 6 of the EFHC1 gene (NM_018100.3). The Arg353Gln missense change in the EFHC1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. 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 amino acid substitution is non-conservative as a positively charged, Arginine residue is replaced by an uncharged, Glutamine residue. Arg353Gln alters a poorly conserved position in the second DM10 domain of the EFHC1 domain and multiple in-silico algorithms predict it may be non-pathogenic. However, another missense mutation at the same codon (Arg353Trp) has been published in association with juvenile myoclonic epilepsy (Annesi, et al., 2007). Therefore, based on the currently available information, it is unclear whether Arg353Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV003765182 SCV001004387 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-11-22 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002288791 SCV002579455 uncertain significance Absence seizure 2021-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977495 SCV004791459 likely benign EFHC1-related disorder 2020-06-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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