ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) (rs746972457)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169060 SCV000220223 likely pathogenic Autosomal recessive polycystic kidney disease 2014-04-03 criteria provided, single submitter literature only
Illumina Clinical Services Laboratory,Illumina RCV000169060 SCV000464090 uncertain significance Autosomal recessive polycystic kidney disease 2016-07-27 criteria provided, single submitter clinical testing The PKHD1 c.3766delC (p.Gln1256ArgfsTer47) variant causes a frameshift and is predicted to result in premature termination of the protein. The p.Gln1256ArgfsTer47 variant has been reported in one individual with autosomal recessive polycystic kidney disease in whom the second variant could not be identified (Gunay-Aygun et al. 2010). Control data are unavailable for this variant, which is reported at a frequency of 0.00191 in the Latino population of the Exome Aggregation Consortium. Due to the potential impact of frameshift variants and the limited evidence available, the p.Gln1256ArgfsTer47 variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive 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 RCV000845134 SCV000987070 likely pathogenic Polycystic liver disease 2017-04-04 no assertion criteria provided literature only

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