ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) (rs777024498)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489976 SCV000577744 uncertain significance not provided 2021-08-12 criteria provided, single submitter clinical testing 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: 23431072, 31589614)
University of Iowa Renal Genetics Clinic,University of Iowa RCV001171380 SCV001250666 likely benign Polycystic kidney disease, adult type 2020-03-25 criteria provided, single submitter clinical testing Segregation analysis of the Gly3300Arg variant in an unaffected family member provides evidence this variant now meets ACMG pathogenicity criteria BS4 and BP5 and is therefore classified as likely benign.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171361 SCV001328308 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3, PP5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001171380 SCV001472254 uncertain significance Polycystic kidney disease, adult type 2020-01-30 criteria provided, single submitter clinical testing The PKD1 c.9898G>A; p.Gly3300Arg variant (rs777024498) is reported in the literature in at least one individual affected with autosomal dominant polycystic kidney disease (Cornec-Le Gall 2013). This variant is reported in ClinVar (Variation ID: 427112), and is found in the general population with an overall allele frequency of 0.012% (24/197542 alleles) in the Genome Aggregation Database. The glycine at codon 3300 is highly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Gly3300Arg variant is uncertain at this time References: Cornec-Le Gall E et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013 May;24(6):1006-13.

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