Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001000829 | SCV001157894 | benign | Polycystic kidney disease, adult type | 2019-01-07 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000500400 | SCV000592854 | likely benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Ser3884= variant was not identified in the literature nor was it identified in the ClinVar, LOVD 3.0, or PKD1-LOVD databases. The variant was identified in dbSNP (ID: rs377436997) as “With Uncertain significance allele”, and ADPKD Mutation Database (classified likely neutral). The variant was identified in control databases in 52 (2 homozygous) of 67022 chromosomes at a frequency of 0.0008 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 1 of 1998 chromosomes (freq: 0.0005), East Asian in 51 (2 homozygous) of 3682 chromosomes (freq: 0.01) while not observed in the African, Latino, European Non-Finnish, Ashkenazi Jewish, Finnish, and South Asian populations. The variant was also identified by our laboratory in 1 individual with polycystic kidneys. The p.Ser3884= 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) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |