ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) (rs201812542)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778797 SCV000915168 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-24 criteria provided, single submitter clinical testing The PKHD1 c.12142C>T (p.Gln4048Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The variant is however, located in last exon of the PKHD1 gene and may escape nonsense-mediated decay. A literature search was performed for the gene, cDNA change, and amino acid change. Based on this search no publications were found reporting the p.Gln4048Ter variant in association with polycystic kidney disease, autosomal recessive, however the p.Gln4048Ter variant was reported in one study in a 64 year old female with polycystic liver disease, in a heterozygous state (Besse et al. 2017). The p.Gln4048Ter variant is reported at a frequency of 0.00084 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence and the potential impact of stop-gained variants, the p.Gln4048Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for an autosomal recessive form of polycystic kidney disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Yale Center for Mendelian Genomics,Yale University RCV000845131 SCV000987067 likely pathogenic Polycystic liver disease 2017-04-04 no assertion criteria provided literature only

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