ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) (rs145184792)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082516 SCV000114558 benign not specified 2015-08-20 criteria provided, single submitter clinical testing
Counsyl RCV000169285 SCV000220595 likely benign Autosomal recessive polycystic kidney disease 2014-08-13 criteria provided, single submitter literature only
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224832 SCV000281593 likely benign not provided 2015-07-08 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000169285 SCV000291323 benign Autosomal recessive polycystic kidney disease 2017-09-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082516 SCV000315756 likely benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000224832 SCV000699842 likely benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.10585G>C (p.Glu3529Gln) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant. This variant was found in 432/120896 control chromosomes (including 7 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0373814 (386/10326). This frequency is about 5.3 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as Likely Benign.
SIB Swiss Institute of Bioinformatics RCV000169285 SCV000803524 benign Autosomal recessive polycystic kidney disease 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Polycystic kidney disease 4 with or without polycystic liver disease, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.

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