ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1111G>A (p.Glu371Lys)

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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 RCV003594769 SCV004244759 uncertain significance Familial focal epilepsy with variable foci 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 371 of the DEPDC5 protein (p.Glu371Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. 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.
Ambry Genetics RCV004978897 SCV005563438 uncertain significance Inborn genetic diseases 2024-10-17 criteria provided, single submitter clinical testing The c.1111G>A (p.E371K) alteration is located in exon 16 (coding exon 15) of the DEPDC5 gene. This alteration results from a G to A substitution at nucleotide position 1111, causing the glutamic acid (E) at amino acid position 371 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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