Submissions for variant NM_001009944.3(PKD1):c.603C>T (p.His201=)

dbSNP: rs13334842

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000500230	SCV000614512	benign	not specified	2017-04-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001653860	SCV001864316	benign	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001292419	SCV001480848	benign	Polycystic kidney disease		no assertion criteria provided	clinical testing	The PKD1 p.His201His variant was not identified in the literature nor was it identified in the Clinvitae, ClinVar, GeneInsight COGR, MutDB, PKD1-LOVD, PKD1-LOVD 3.0 databases nor in the NHLBI GO Exome Sequencing Project. The variant was identified in dbSNP (ID: rs13334842) as “NA” and in the ADPKD Mutation Database as likely neutral. The variant was further identified in the 1000 Genomes Project in 35 of 5000 chromosomes (frequency: 0.007); and in the Exome Aggregation Consortium database (August 8, 2016) in 9 (1 homozygous) of 11240 chromosomes (frequency: 0.0008) in the African population but not seen the East Asian, European (Non-Finnish), Latino, South Asian or European (Finnish) populations. In addition we cannot be certain that data from control databases is specific to PKD1 and not from one of the six PKD1 pseudogenes. The p.His201His variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, and HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, this variant meets our laboratory criteria to be classified as benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000500230	SCV001978247	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000500230	SCV001980055	benign	not specified		no assertion criteria provided	clinical testing