Submissions for variant NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)

gnomAD frequency: 0.00058  dbSNP: rs201432731

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000405708	SCV000342912	uncertain significance	not provided	2016-06-09	criteria provided, single submitter	clinical testing
Invitae	RCV000549371	SCV000629908	benign	Autosomal recessive polycystic kidney disease	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000549371	SCV000789684	likely benign	Autosomal recessive polycystic kidney disease	2017-02-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000405708	SCV001154775	uncertain significance	not provided	2017-01-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000549371	SCV001325521	uncertain significance	Autosomal recessive polycystic kidney disease	2017-04-27	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.
GeneDx	RCV000405708	SCV002032588	uncertain significance	not provided	2023-07-10	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic in patients with PKHD1-related disease to our knowledge; This variant is associated with the following publications: (PMID: 12874454)
PreventionGenetics, part of Exact Sciences	RCV003910015	SCV004726661	benign	PKHD1-related condition	2021-03-29	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	RCV001844823	SCV001876965	uncertain significance	Autosomal dominant polycystic liver disease	2021-09-01	no assertion criteria provided	research
Natera, Inc.	RCV000549371	SCV002081041	benign	Autosomal recessive polycystic kidney disease	2017-11-14	no assertion criteria provided	clinical testing