Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000501969 | SCV000592826 | uncertain significance | not specified | 2016-08-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481605 | SCV002780565 | uncertain significance | Polycystic kidney disease, adult type | 2022-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524139 | SCV003552107 | uncertain significance | Inborn genetic diseases | 2022-12-28 | criteria provided, single submitter | clinical testing | The c.8590G>A (p.E2864K) alteration is located in exon 23 (coding exon 23) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 8590, causing the glutamic acid (E) at amino acid position 2864 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Preventiongenetics, |
RCV003419853 | SCV004114472 | uncertain significance | PKD1-related condition | 2023-10-13 | criteria provided, single submitter | clinical testing | The PKD1 c.8590G>A variant is predicted to result in the amino acid substitution p.Glu2864Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2153468-C-T), which may be too common to be a primary cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence. |