ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) (rs199476099)

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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 RCV000008688 SCV000884320 benign Polycystic kidney disease, adult type 2019-04-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756490 SCV001150735 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199134 SCV001370129 uncertain significance Muscle weakness; Headache; Myopia (disease); Dilatation of the cerebral artery; Polycystic liver disease 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3. This variant was detected in heterozygous state.
OMIM RCV000008688 SCV000028897 pathogenic Polycystic kidney disease, adult type 1999-07-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000008688 SCV001142453 uncertain significance Polycystic kidney disease, adult type 2020-01-06 no assertion criteria provided curation NM_001009944.2:c.971G>T in the PKD1 gene has an allele frequency of 0.006 in European (Finnish) subpopulation in the gnomAD database. This variant has been detected in a individual with autosomal dominant polycystic kidney disease (PMID: 10364515). Benign computational verdict because benign predictions from DEOGEN2, EIGEN, FATHMM-MKL, PrimateAI and SIFT. As a dominant inheritance manner, a total of 626 allleles was detected in gnomAD database which is a evidence to against its pathogenicity, although the adult-onset should be considered. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PP4, BP4.

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