ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)

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Total submissions: 1
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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 RCV003482208 SCV004227991 uncertain significance Polycystic kidney disease 4 2024-01-02 criteria provided, single submitter clinical testing The c.9974_9976del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature with PKHD1-related conditions nor reported to any clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is located in a non-repeat region of the gene and causes in-frame deletion of a single amino acid that changes protein coding length.

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