ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG (p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly)

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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 RCV002465015 SCV002759408 likely pathogenic Polycystic kidney disease, adult type 2022-06-14 criteria provided, single submitter clinical testing This 27 bp in-frame insertion variant is not present in publicly available population databases like 1000 Genomes, EVS, gnomAD and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not previously reported to ClinVar, HGMD and OMIM databases, in any affected individuals. In-silico pathogenicity prediction programs like CADD, Varsome etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies. The variant is not present in a repeat region and protein coding length changes as a result of this in-frame variant.

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