ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1720A>G (p.Arg574Gly)

gnomAD frequency: 0.00001  dbSNP: rs762484005
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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 RCV000820747 SCV000961473 uncertain significance Familial focal epilepsy with variable foci 2022-11-22 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 662979). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is present in population databases (rs762484005, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 574 of the DEPDC5 protein (p.Arg574Gly).
GeneDx RCV001571858 SCV001796402 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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