ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.5425C>T (p.Arg1809Trp)

dbSNP: rs1646379326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV001527396 SCV001738388 uncertain significance Developmental and epileptic encephalopathy, 23 2021-03-10 criteria provided, single submitter clinical testing The c.5332C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC) or Genome Aggregation Database (gnomAD). The variant is also not present in Indian Exome Database [Kausthubham et al. Hum Mutat, 2021] or in our in-house exome database. The variant has notbeen previously reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-3, MutationTaster2, CADD etc. predicted this variant to be likely disease causing. There are no proven functional studies reported to prove its pathogenicity. Due to lack of enough evidence the variant has been classified as uncertain significance.
Breakthrough Genomics, Breakthrough Genomics RCV004691434 SCV005186722 uncertain significance not provided criteria provided, single submitter not provided

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