Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000504211 | SCV001476614 | benign | not specified | 2019-09-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932801 | SCV004748788 | benign | PKD1-related condition | 2019-12-16 | 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). |
Department of Pathology and Laboratory Medicine, |
RCV001291901 | SCV000592779 | benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Ile1624Ile variant was not identified in the literature nor was it identified in the Clinvitae, ClinVar, GeneInsight COGR, MutDB, PKD1-LOVD and PKD1-LOVD 3.0 databases nor was it identified in the NHLBI GO Exome Sequencing Project. The variant was identified in the ADPKD Mutation Database as likely neutral. The variant was also identified in dbSNP (ID: rs142575178) as “NA”, in the 1000 Genomes Project in 14 of 500 chromosomes (frequency: 0.028), in the Exome Aggregation Consortium database (August 8, 2016) in 77 of 118592 chromosomes (frequency: 0.0006) in the following populations: African in 76 of 9904 chromosomes (frequency: 0.008) and European (Non-Finnish) in 1 of 61652 chromosomes (frequency: 0.00002), but was not seen in East Asian, European (Finnish), Latino and South Asian 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.Ile1624Ile 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, 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. |