Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000247927 | SCV000305752 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000992587 | SCV001144989 | benign | not provided | 2019-05-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002155 | SCV001160010 | benign | Polycystic kidney disease, adult type | 2018-10-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000992587 | SCV001901154 | benign | not provided | 2020-06-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22383692) |
Department of Pathology and Laboratory Medicine, |
RCV001292196 | SCV001480920 | likely benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Asn1791= variant was identified in 2 of 550 proband chromosomes (frequency: 0.003636) from individuals or families with autosomal dominant polycystic kidney disease (ADPKD) (Rossetti 2002, Rossetti 2012). The variant was also identified in dbSNP (ID: rs143017410) “With Benign allele,” ClinVar (as benign by Prevention Genetics), and ADPKD Mutation Database (2x as likely neutral). The variant was not identified in GeneInsight-COGR, LOVD 3.0, and PKD1-LOVD databases. The variant was identified in control databases in 265 of 269328 chromosomes at a frequency of 0.001 increasing the likelihood that this may be a low frequency benign variant in certain populations of origin (Genome Aggregation Consortium Feb 27, 2017), being identified in the following populations: African in 234 of 22952 chromosomes (frequency: 0.0102), Ashkenazi Jewish in 6 of 9984 chromosomes (frequency: 0.00006), Latino in 20 of 34170 chromosomes (frequency: 0.00006), Other in 2 of 6290 chromosomes (frequency: 0.00003), and European Non-Finnish in 3 of 122142 chromosomes (frequency: 0.00002). 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.Asn1791= 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 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. |