ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3514C>T (p.Gln1172Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961895 SCV005468781 pathogenic Inborn genetic diseases 2024-10-03 criteria provided, single submitter clinical testing The c.3514C>T (p.Q1172*) alteration, located in exon 15 (coding exon 15) of the PKD1 gene, consists of a C to T substitution at nucleotide position 3514. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 1172. 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 was reported in multiple individuals with features consistent with PKD1-related polycystic kidney disease (Yilmaz, 2024; Nigro, 2023; Kim, 2019; Xu, 2018). Based on the available evidence, this alteration is classified as pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005392905 SCV006052526 pathogenic Polycystic kidney disease, adult type 2024-10-11 criteria provided, single submitter clinical testing

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