ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.748T>G (p.Phe250Val)

gnomAD frequency: 0.00029  dbSNP: rs201429774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866708 SCV001007840 likely benign Familial focal epilepsy with variable foci 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390777 SCV002668618 uncertain significance Inborn genetic diseases 2018-07-27 criteria provided, single submitter clinical testing The p.F250V variant (also known as c.748T>G), located in coding exon 11 of the DEPDC5 gene, results from a T to G substitution at nucleotide position 748. The phenylalanine at codon 250 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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