ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2879C>T (p.Thr960Met)

gnomAD frequency: 0.00001  dbSNP: rs1064795107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484188 SCV000570581 uncertain significance not provided 2016-06-04 criteria provided, single submitter clinical testing The T960M variant in the DEPDC5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T960M variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T960M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T960M as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002525871 SCV003258735 uncertain significance Familial focal epilepsy with variable foci 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 960 of the DEPDC5 protein (p.Thr960Met). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 421391). 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.

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