ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) (rs201105958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000592600 SCV000794968 uncertain significance Autosomal recessive polycystic kidney disease 2017-10-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723529 SCV000700545 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000592600 SCV000897295 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000592600 SCV000915171 uncertain significance Autosomal recessive polycystic kidney disease 2018-03-23 criteria provided, single submitter clinical testing The PKHD1 c.5498C>T (p.Ser1833Leu) missense variant has been reported in three studies and is found in three individuals with autosomal recessive polycystic kidney disease, two in a compound heterozygous state and one in whom zygosity was not specified, but who also carried two other variants (Rossetti et al. 2003; Gunay-Aygun et al. 2010; Tong et al. 2016). Probands exhibited phenotypes including medullary sponge kidney, Caroli's disease, and congenital hepatic fibrosis (Rossetti et al. 2003; Gunay-Aygun et al. 2010). Control data are unavailable for this variant, which is reported at a frequency of 0.000293 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the evidence, the p.Ser1833Leu 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.

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