ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp)

gnomAD frequency: 0.00003  dbSNP: rs773426104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001251464 SCV001427164 uncertain significance Polycystic kidney disease, adult type 2018-07-12 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_001009944.2(PKD1):c.2473C>T, has been identified in exon 11 of 46 of the PKD1 gene. The variant is predicted to result in a major amino acid change from arginine to tryptophan at position 825 of the protein (NP_001009944.2(PKD1):p.(Arg825Trp)). The arginine at this position has low conservation (100 vertebrates, UCSC), and is not located within a well established functional domain. In silico predictions of pathogenicity for this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD database at a frequency of 0.003% (7 heterozygotes, 0 homozygotes), as is an alternative change, p.(Arg825Gln), at a frequency of 0.001% (3 heterozygotes, 0 homozygotes). This variant has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).
Fulgent Genetics, Fulgent Genetics RCV001251464 SCV005643116 uncertain significance Polycystic kidney disease, adult type 2024-04-08 criteria provided, single submitter clinical testing

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