ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val)

gnomAD frequency: 0.00004  dbSNP: rs529069517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324261 SCV001515209 uncertain significance Familial focal epilepsy with variable foci 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 113 of the DEPDC5 protein (p.Asp113Val). This variant is present in population databases (rs529069517, gnomAD 0.02%). 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: 1024115). 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.
New York Genome Center RCV002265984 SCV002548718 uncertain significance Epilepsy, familial focal, with variable foci 1 2021-08-13 criteria provided, single submitter clinical testing The inherited c.338A>T (p.Asp113Val) variant in DEPDC5 has not been reported in affected individuals in the literature to the best of our knowledge. It has been reported in ClinVar database as a variant of uncertain significance [Variation ID:1024115]. The variant has 0.00003944 allele frequency in the gnomAD(v3) database (6 out of 152112 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in populations represented in that database. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools [CADD score = 29.9, REVEL score= 0.768]. Functional studies to evaluate the potential pathogenicity of this variant have not been reported in the literature. Based on the available evidence, the inherited heterozygous c.338A>T (p.Asp113Val) missense variant identified in DEPDC5 gene is reported as a Variant of UncertainSignificance.

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