ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)

gnomAD frequency: 0.00009  dbSNP: rs200116252
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116944 SCV000151053 uncertain significance not provided 2013-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000116944 SCV000240965 uncertain significance not provided 2015-12-28 criteria provided, single submitter clinical testing The I462T variant has not been published as a pathogenic variant, 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 I462T 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. This substitution occurs at a position that is conserved across species. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with EFHC1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Fulgent Genetics, Fulgent Genetics RCV000515423 SCV000611475 uncertain significance Absence seizure; Juvenile myoclonic epilepsy 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764815 SCV000640920 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2024-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019629 SCV003879605 uncertain significance not specified 2023-02-22 criteria provided, single submitter clinical testing The c.1385T>C (p.I462T) alteration is located in exon 8 (coding exon 8) of the EFHC1 gene. This alteration results from a T to C substitution at nucleotide position 1385, causing the isoleucine (I) at amino acid position 462 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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