ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)

dbSNP: rs1596591955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788896 SCV000928181 likely pathogenic not provided 2019-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501033 SCV002813894 pathogenic Polycystic kidney disease, adult type 2022-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536909 SCV003595768 pathogenic Inborn genetic diseases 2021-12-27 criteria provided, single submitter clinical testing The c.412C>T (p.R138*) alteration, located in exon 4 (coding exon 4) of the PKD1 gene, consists of a C to T substitution at nucleotide position 412. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 138. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This mutation has been identified in several individuals with polycystic kidney disease (Rossetti, 2007; Liu, 2015; Ottlewski, 2019; Schönauer, 2020). Based on the available evidence, this alteration is classified as pathogenic.
GeneDx RCV000788896 SCV003842921 pathogenic not provided 2022-10-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17582161, 32472977, 34739738, 29860066, 31027891)

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