ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)

dbSNP: rs1555453395
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517376 SCV000614524 pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000517376 SCV002571371 pathogenic not provided 2024-12-09 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, 30333007, 11967008, BayyadE2023[Article])
Ambry Genetics RCV003372738 SCV004085845 pathogenic Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.7126C>T (p.Q2376*) alteration, located in exon 17 (coding exon 17) of the PKD1 gene, consists of a C to T substitution at nucleotide position 7126. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 2376. 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 variant has been reported in multiple individuals who met clinical criteria for PKD1-related polycystic kidney disease by ultrasound criteria (Rossetti, 2002; He, 2018). Based on the available evidence, this alteration is classified as pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004686590 SCV005184252 pathogenic Polycystic kidney disease, adult type 2024-07-19 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting+PP4
Fulgent Genetics, Fulgent Genetics RCV004686590 SCV005638366 pathogenic Polycystic kidney disease, adult type 2024-03-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV004686590 SCV006055046 pathogenic Polycystic kidney disease, adult type 2022-10-25 criteria provided, single submitter clinical testing

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