ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser)

gnomAD frequency: 0.00006  dbSNP: rs371312649
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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 RCV002233589 SCV000822959 uncertain significance Familial focal epilepsy with variable foci 2023-06-05 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 572976). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is present in population databases (rs371312649, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 470 of the DEPDC5 protein (p.Pro470Ser).
Centogene AG - the Rare Disease Company RCV000694510 SCV002059374 uncertain significance Epilepsy, familial focal, with variable foci 1 2019-04-24 criteria provided, single submitter clinical testing

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