ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.1442dup (p.Val482fs)

dbSNP: rs1567825026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000786908 SCV002799869 likely pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis 2021-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396363 SCV004103260 likely pathogenic DGKE-related condition 2023-05-11 criteria provided, single submitter clinical testing The DGKE c.1442dupG variant is predicted to result in a frameshift and premature protein termination (p.Val482Serfs*16). To our knowledge, this variant is not reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-54939528-T-TG). Frameshift variants in DGKE are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786908 SCV000925809 likely pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis 2018-12-03 no assertion criteria provided clinical testing

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