ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser)

dbSNP: rs1370595536
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002286331 SCV002575094 uncertain significance Epilepsy, familial focal, with variable foci 1 2022-03-16 criteria provided, single submitter clinical testing A heterozygous variation in exon 26 of the DEPDC5 gene that results in the amino acid substitution of Arginine acid at codon 825 was detected that leads to termination. The observed variant c.2473C>T (p.Arg825Ter) has not been reported in the 1000 genomes and has a minor allele frequency of 0.001% in the gnomAD database. The in silico prediction of the variant is benign. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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