ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.262A>G (p.Asn88Asp) (rs144712084)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525422 SCV000642179 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715809 SCV000846640 uncertain significance Seizures 2018-03-13 criteria provided, single submitter clinical testing The p.N88D variant (also known as c.262A>G), located in coding exon 4 of the DEPDC5 gene, results from an A to G substitution at nucleotide position 262. The asparagine at codon 88 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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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