ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) (rs200168879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710170 SCV000572964 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing The R2888H variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2888H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2888H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R2888H as a variant of uncertain significance.
Athena Diagnostics Inc RCV000710170 SCV000614552 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002129 SCV001159984 uncertain significance Polycystic kidney disease, adult type 2019-04-03 criteria provided, single submitter clinical testing The PKD1 c.8663G>A; p.Arg2888His variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 423287). This variant is found in the general population with an overall allele frequency of 0.02% (51/265390 alleles) in the Genome Aggregation Database. The arginine at codon 2888 is weakly conserved, it occurs as a histidine in several vertebrate species, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Arg2888His variant is uncertain at this time.

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