ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer)

dbSNP: rs2050617604
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267656 SCV001445878 pathogenic Vici syndrome 2019-10-10 criteria provided, single submitter clinical testing This nonsense variant found in exon 10 of 44 is predicted to result in loss of normal protein function. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.2066del (p.Leu689Ter) variant is classified as Pathogenic.

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