ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu)

gnomAD frequency: 0.00024  dbSNP: rs748021456
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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 RCV001251479 SCV001427108 uncertain significance Polycystic kidney disease, adult type 2018-05-23 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_000296.3(PKD1):c.674C>T, has been identified in exon 5 of 46 of the PKD1 gene. The variant is predicted to result in a major amino acid change from serine to leucine at position 225 of the protein (NP_000287.3(PKD1):p.(Ser225Leu)). The serine residue at this position has low conservation (100 vertebrates, UCSC), and is located within the WSC 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 0.0292%. The variant has been previously described as likely pathogenic in one individual with autosomal dominant polycystic kidney disease, however the evidence for the likely pathogenic classification was not clear (Cornec-Le Gall, E. et al., (2013)). Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNKNOWN SIGNIFICANCE (VUS).

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