ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu)

gnomAD frequency: 0.00004  dbSNP: rs370487077
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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 RCV000642487 SCV000764170 uncertain significance Familial focal epilepsy with variable foci 2024-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 829 of the DEPDC5 protein (p.Pro829Leu). This variant is present in population databases (rs370487077, gnomAD 0.01%). 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: 534795). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252191 SCV002522916 uncertain significance See cases 2021-02-19 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Ambry Genetics RCV002424448 SCV002741763 uncertain significance Inborn genetic diseases 2023-03-28 criteria provided, single submitter clinical testing The c.2486C>T (p.P829L) alteration is located in exon 27 (coding exon 26) of the DEPDC5 gene. This alteration results from a C to T substitution at nucleotide position 2486, causing the proline (P) at amino acid position 829 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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