ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) (rs116809571)

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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 RCV000082553 SCV000114595 benign not specified 2013-04-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224846 SCV000281026 likely benign not provided 2015-10-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000229420 SCV000291333 benign Autosomal recessive polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082553 SCV000315805 benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000224846 SCV000699864 benign not provided 2016-04-26 criteria provided, single submitter clinical testing Variant summary: The c.4343A>G in PKHD1 gene is a missense change that alters a non-conserved nucleotide and 3/4 in silico tools predict benign outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.2%, predominantly in individuals of African descent (2.1%), including 2 homozygous occurrences. This frequency exceeds the maximal expected allele frequency for a pathogenic variant in PKHD1 gene (0.7%). The variant of interest has not, to our knowledge, been reported in affected individuals in published reports. Lastly, a reputable database/diagnostic center classified the variant of interest as Benign. Taking together, the variant was classified as Benign.
Counsyl RCV000229420 SCV000800295 likely benign Autosomal recessive polycystic kidney disease 2018-06-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229420 SCV001327550 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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