ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)

gnomAD frequency: 0.00008  dbSNP: rs574948354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727433 SCV000240960 uncertain significance not provided 2014-03-18 criteria provided, single submitter clinical testing p.Tyr631Cys (TAC>TGC): c.1892 A>G in exon 11 of the EFHC1 gene (NM_018100.3). The Y631C variant 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 Y631C variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals but is not conserved in more distantly related species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Eurofins Ntd Llc (ga) RCV000727433 SCV000708516 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764652 SCV000895773 uncertain significance Absence seizure; Juvenile myoclonic epilepsy 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727433 SCV004234679 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing

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