ClinVar Miner

Submissions for variant NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)

dbSNP: rs1553849919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000664417 SCV000883247 likely pathogenic Polycystic kidney disease 6 with or without polycystic liver disease 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Polycystic kidney disease 6 with or without polycystic liver disease, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM1 => Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (https://www.uniprot.org/uniprot/Q9UBS4). PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29706351).
OMIM RCV000664417 SCV000788348 pathogenic Polycystic kidney disease 6 with or without polycystic liver disease 2018-07-27 no assertion criteria provided literature only

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