ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) (rs777183511)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000288236 SCV000345649 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317551 SCV000464106 uncertain significance Autosomal recessive polycystic kidney disease 2016-07-27 criteria provided, single submitter clinical testing The PKHD1 c.2269A>C (p.Ile757Leu) variant is a missense variant that has been reported in two studies, where it was found in a compound heterozygous state in two individuals with polycystic kidney disease (Rossetti et al. 2003; Sharp et al. 2005). This variant was absent from 300 control chromosomes. It is reported at a frequency of 0.00017 in the Latino population of the Exome Aggregation Consortium, but this frequency is based on two alleles only in a region of good sequencing coverage. Therefore, the variant is presumed to be rare. The evidence for this variant is limited. The p.Ile757Leu variant is therefore 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.
SIB Swiss Institute of Bioinformatics RCV000317551 SCV000803597 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Conflicting Evidence, for Polycystic kidney disease 4 with or without polycystic liver disease, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Baylor Genetics RCV000317551 SCV001163057 likely pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing

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