ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4163T>C (p.Leu1388Pro)

dbSNP: rs1446980540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001922508 SCV002170491 uncertain significance Familial focal epilepsy with variable foci 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1388 of the DEPDC5 protein (p.Leu1388Pro). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1398183). 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 RCV002555260 SCV003553107 uncertain significance Inborn genetic diseases 2020-12-28 criteria provided, single submitter clinical testing The c.4163T>C (p.L1388P) alteration is located in exon 39 (coding exon 38) of the DEPDC5 gene. This alteration results from a T to C substitution at nucleotide position 4163, causing the leucine (L) at amino acid position 1388 to be replaced by a proline (P). The in silico prediction for the p.L1388P alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481176 SCV004225594 uncertain significance not provided 2022-09-29 criteria provided, single submitter clinical testing

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