ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met)

gnomAD frequency: 0.00003  dbSNP: rs575683658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217312 SCV001389146 uncertain significance Familial focal epilepsy with variable foci 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 167 of the DEPDC5 protein (p.Thr167Met). This variant is present in population databases (rs575683658, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of familial focal epilepsy with variable foci (Invitae). ClinVar contains an entry for this variant (Variation ID: 946444). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV001569061 SCV001793048 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002491674 SCV002800200 uncertain significance Epilepsy, familial focal, with variable foci 1 2021-09-09 criteria provided, single submitter clinical testing

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