ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys)

gnomAD frequency: 0.00008  dbSNP: rs750467533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702864 SCV000831736 uncertain significance Familial focal epilepsy with variable foci 2023-12-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 264 of the DEPDC5 protein (p.Arg264Lys). This variant is present in population databases (rs750467533, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 579549). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002422582 SCV002676538 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.791G>A (p.R264K) alteration is located in exon 13 (coding exon 12) of the DEPDC5 gene. This alteration results from a G to A substitution at nucleotide position 791, causing the arginine (R) at amino acid position 264 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485736 SCV002791776 uncertain significance Epilepsy, familial focal, with variable foci 1 2021-09-13 criteria provided, single submitter clinical testing

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