Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518272 | SCV000614508 | benign | not specified | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092714 | SCV001249350 | likely benign | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262469 | SCV001440363 | likely benign | Polycystic kidney disease, adult type | 2019-01-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001262469 | SCV001474392 | uncertain significance | Polycystic kidney disease, adult type | 2019-08-29 | criteria provided, single submitter | clinical testing | The PKD1 c.5453C>T; p.Ala1818Val variant (rs746910149), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 447988). This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.17% (17/9844 alleles) in the Genome Aggregation Database. The alanine at codon 1818 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ala1818Val variant is uncertain at this time. |
Ambry Genetics | RCV003243164 | SCV003952717 | uncertain significance | Inborn genetic diseases | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.5453C>T (p.A1818V) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 5453, causing the alanine (A) at amino acid position 1818 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |