ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser)

gnomAD frequency: 0.00003  dbSNP: rs1211697062
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756532 SCV000884367 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing The PKD1 c.9199C>T; p.Pro3067Ser variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The proline at codon 3067 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Pro3067Ser variant is uncertain at this time.
GeneDx RCV000756532 SCV002013836 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002493377 SCV002793594 uncertain significance Polycystic kidney disease, adult type 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396318 SCV004104740 uncertain significance PKD1-related disorder 2023-02-20 criteria provided, single submitter clinical testing The PKD1 c.9199C>T variant is predicted to result in the amino acid substitution p.Pro3067Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004958074 SCV005475102 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.9199C>T (p.P3067S) alteration is located in exon 25 (coding exon 25) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 9199, causing the proline (P) at amino acid position 3067 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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