ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly)

gnomAD frequency: 0.00005  dbSNP: rs529767823
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003768534 SCV000959480 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2023-08-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 661434). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EFHC1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 425 of the EFHC1 protein (p.Val425Gly). This variant is present in population databases (rs529767823, gnomAD 0.02%).
Ambry Genetics RCV002535488 SCV003602942 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.1274T>G (p.V425G) alteration is located in exon 7 (coding exon 7) of the EFHC1 gene. This alteration results from a T to G substitution at nucleotide position 1274, causing the valine (V) at amino acid position 425 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.