ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)

dbSNP: rs747362311
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000681794 SCV000928242 likely pathogenic not provided 2019-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000681794 SCV002571552 likely pathogenic not provided 2022-12-13 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: 26632257, 24582653, 30586318)
Fulgent Genetics, Fulgent Genetics RCV002499204 SCV002804912 pathogenic Polycystic kidney disease, adult type 2022-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000681794 SCV004010443 likely pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing PKD1: PM2, PS2:Moderate, PS4:Moderate, PP4
PreventionGenetics, part of Exact Sciences RCV003403577 SCV004104166 pathogenic PKD1-related condition 2023-09-15 criteria provided, single submitter clinical testing The PKD1 c.3955G>A variant is predicted to result in the amino acid substitution p.Gly1319Arg. This variant has been reported in presumably unrelated individuals with polycystic kidney disease (Yang et al. 2014. PubMed ID: 24582653; Liu et al. 2015. PubMed ID: 26632257; Groopman et al. 2018. PubMed ID: 30586318, Table S7). In addition, we have found this variant in the heterozygous state in several presumably unrelated patients tested for polycystic kidney disease at PreventionGenetics. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2161213-C-T). This variant is interpreted as pathogenic.
Gharavi Laboratory, Columbia University RCV000681794 SCV000809260 pathogenic not provided 2018-09-16 no assertion criteria provided research

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