Submissions for variant NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys)

dbSNP: rs777509933

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174698	SCV001337952	uncertain significance	not specified	2021-05-04	criteria provided, single submitter	clinical testing	Variant summary: DEPDC5 c.3292C>T (p.Arg1098Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 156378 control chromosomes (gnomAD). 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.3292C>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. No other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	RCV003333760	SCV004041713	uncertain significance	Epilepsy, familial focal, with variable foci 1	2023-10-09	no assertion criteria provided	clinical testing