Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001336 | SCV001158526 | benign | Polycystic kidney disease, adult type | 2019-05-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577031 | SCV001804343 | likely benign | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001577031 | SCV002585540 | benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | PKD1: BS1, BS2 |
Department of Pathology and Laboratory Medicine, |
RCV001292436 | SCV001480932 | likely benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 c.7490-10C>T variant was not identified in the literature nor was it identified in the ClinVar, GeneInsight-COGR, LOVD 3.0, and PKD1-LOVD, databases. The variant was identified in dbSNP (ID: rs201304767) as “NA”; in ADPKD Mutation Database 1X as Likely Neutral and in the 1000 Genomes Project in 4 of 5000 chromosomes (frequency: 0.0008). Furthermore, the variant was identified in control databases in 138 of 260822 chromosomes at a frequency of 0.0005 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Consortium Feb 27, 2017). 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 variant occurs outside of the splicing consensus sequence and 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, 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. |