ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1249A>T (p.Asn417Tyr)

dbSNP: rs763518514
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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 RCV000465903 SCV000546508 uncertain significance Familial focal epilepsy with variable foci 2024-03-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 417 of the DEPDC5 protein (p.Asn417Tyr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of DEPDC5-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 407345). 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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