ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9513del (p.Thr3172fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003111522 SCV003762174 likely pathogenic Polycystic kidney disease, adult type 2023-02-03 criteria provided, single submitter clinical testing The variant is not listed in control collectives (gnomAD). It has not yet been described in the literature or in the ClinVar database. The frame shift resulting from the deletion is a loss-of-function alteration. Loss-of-function alterations in PKD1 are a known pathomechanism for the development of ADPKD. Therefore, a pathogenetic relevance can be assumed with a high degree of probability. Bioinformatically, the change is classified as "probably disease-causing" (PolyPhen2, Mutation Taster, SIFT). At this point in time, the variant is to be considered a "likely pathogenic variant" (ACMG criteria).

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