ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)

dbSNP: rs1567191044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712641 SCV000843159 uncertain significance not provided 2020-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000712641 SCV001988895 uncertain significance not provided 2023-06-13 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; This variant is associated with the following publications: (PMID: 25333066, 30333007)
PreventionGenetics, part of Exact Sciences RCV003403644 SCV004102922 likely pathogenic PKD1-related condition 2023-09-06 criteria provided, single submitter clinical testing The PKD1 c.6827T>C variant is predicted to result in the amino acid substitution p.Leu2276Pro. This variant was reported in unrelated individuals with polycystic kidney disease (Trujillano et al. 2014. PubMed ID: 25333066; He et al. 2018. PubMed ID: 30333007). Of note, this variant was reported to be segregated with disease in He et al. study. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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