ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)

dbSNP: rs1567177684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory, Columbia University RCV000681668 SCV000809114 pathogenic not provided 2018-09-16 criteria provided, single submitter research
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV000681668 SCV001422332 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000681668 SCV002498861 likely pathogenic not provided 2022-04-04 criteria provided, single submitter clinical testing Published in vitro functional studies demonstrate a damaging effect through resistance to GPS cleavage required for PC1 trafficking to cilia (Cai et al., 2014); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12007219, 31085678, 33437033, 22508176, 25365220, 18791038, 11115377, 23431072)
Athena Diagnostics Inc RCV000681668 SCV004229849 likely pathogenic not provided 2023-03-17 criteria provided, single submitter clinical testing This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 25365220) Computational tools predict that this variant is damaging. The variant is located in a region that is considered important for protein function and/or structure.

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