ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001840796 SCV002099663 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001879941 SCV002206621 uncertain significance Familial focal epilepsy with variable foci 2025-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 439 of the DEPDC5 protein (p.Arg439His). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 977883). 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 RCV003339567 SCV004066000 uncertain significance Inborn genetic diseases 2023-06-21 criteria provided, single submitter clinical testing The c.1316G>A (p.R439H) alteration is located in exon 19 (coding exon 18) of the DEPDC5 gene. This alteration results from a G to A substitution at nucleotide position 1316, causing the arginine (R) at amino acid position 439 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255803 SCV001432418 likely benign Epilepsy, familial focal, with variable foci 1 no assertion criteria provided clinical testing

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