Submissions for variant NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)

gnomAD frequency: 0.05010  dbSNP: rs62406032

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082541	SCV000114583	benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082541	SCV000315791	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318202	SCV000464103	benign	Autosomal recessive polycystic kidney disease	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000318202	SCV000743916	benign	Autosomal recessive polycystic kidney disease	2017-01-17	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000318202	SCV000803543	benign	Autosomal recessive polycystic kidney disease	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone, for Polycystic kidney disease 4 with or without polycystic liver disease, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Invitae	RCV000318202	SCV001000534	benign	Autosomal recessive polycystic kidney disease	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001530437	SCV001745265	benign	Polycystic kidney disease 4	2021-06-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001705798	SCV001885692	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25701400)
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001291849	SCV000592889	benign	Polycystic kidney disease		no assertion criteria provided	clinical testing	The c.2489A>G, p.Asn830Ser variant was identified in 6.78% of 8237 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000318202	SCV000734508	benign	Autosomal recessive polycystic kidney disease		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000318202	SCV002081028	benign	Autosomal recessive polycystic kidney disease	2017-05-11	no assertion criteria provided	clinical testing