ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.542T>A (p.Met181Lys)

dbSNP: rs1060501486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230781 SCV000546502 uncertain significance Familial focal epilepsy with variable foci 2022-04-24 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C55"). ClinVar contains an entry for this variant (Variation ID: 407340). This missense change has been observed in individual(s) with clinical features of DEPDC5-related conditions (PMID: 30093711). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 181 of the DEPDC5 protein (p.Met181Lys).

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