ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val)

gnomAD frequency: 0.00001  dbSNP: rs772280549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056955 SCV001221422 uncertain significance Familial focal epilepsy with variable foci 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1208 of the DEPDC5 protein (p.Ala1208Val). This variant is present in population databases (rs772280549, gnomAD 0.006%). 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: 852364). 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.
GeneDx RCV001760006 SCV001990601 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002460130 SCV002617992 uncertain significance Inborn genetic diseases 2018-05-09 criteria provided, single submitter clinical testing The p.A1208V variant (also known as c.3623C>T), located in coding exon 35 of the DEPDC5 gene, results from a C to T substitution at nucleotide position 3623. The alanine at codon 1208 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987770 SCV004803257 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: DEPDC5 c.3623C>T (p.Ala1208Val) results in a non-conservative amino acid change located in the DEP domain (IPR000591) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.1e-05 in 242098 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3623C>T in individuals affected with Epilepsy, Familial Focal, With Variable Foci 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 852364, VUS). Based on the evidence outlined above, the variant was classified as uncertain significance.

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