Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV001251489 | SCV001427141 | likely pathogenic | Polycystic kidney disease, adult type | 2018-12-12 | criteria provided, single submitter | clinical testing | A heterozygous missense variant, NM_001009944.2(PKD1):c.10810G>A, has been identified in exon 36 of 46 of the PKD1 gene. The variant is predicted to result in a minor amino acid change from glutamic acid to lysine at position 3604 of the protein (NP_001009944.2(PKD1):p.(Glu3604Lys)). The glutamic acid residue at this position has high conservation (100 vertebrates, UCSC), but is not located within a well established functional domain. In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G) but has been previously described as pathogenic in one patient with polycystic kidney disease (Rossetti, S. et al. (2007)). Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC. |