ClinVar Miner

Submissions for variant NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) (rs147222255)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659055 SCV000780862 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Counsyl RCV000473573 SCV000799007 uncertain significance Autosomal recessive polycystic kidney disease 2018-04-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000082581 SCV000592904 uncertain significance not specified 2016-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082581 SCV000114623 likely benign not specified 2015-10-05 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000473573 SCV000680338 likely pathogenic Autosomal recessive polycystic kidney disease 2017-12-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000082581 SCV000918005 likely benign not specified 2017-12-28 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.8345G>C (p.Gly2782Ala) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 723/277128 control chromosomes (4 homozygotes), predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.004782 (605/126528). This frequency is somewhat less than the estimated maximal expected allele frequency of a pathogenic PKHD1 (0.0070711). The variant has been reported in in the literature, where it was identified in 2/200 healthy control chromosomes (Sharp 2005). This study reported this variant as a polymorphism (benign) based on the criteria proposed by them. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as VUS/likely benign. Taken together, this variant is classified as Likely Benign, until addtional evidence becomes available.
Invitae RCV000473573 SCV000557652 likely benign Autosomal recessive polycystic kidney disease 2017-07-17 criteria provided, single submitter clinical testing

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