ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys)

dbSNP: rs747425659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001251475 SCV001427102 uncertain significance Polycystic kidney disease, adult type 2018-05-21 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_001009944.2(PKD1):c.11962C>T, has been identified in exon 43 of 46 of the PKD1 gene. The variant is predicted to result in a major amino acid change from arginine to cysteine at position 3988 of the protein (NP_001009944.2(PKD1):p.(Arg3988Cys)). The arginine residue at this position has low conservation (100 vertebrates, UCSC), and is located within the PKD channel superfamily domain. In-silico predictions of pathogenicity for this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G), and has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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