Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594183 | SCV000703414 | uncertain significance | not provided | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000509311 | SCV001197482 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000509311 | SCV001323266 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Victorian Clinical Genetics Services, |
RCV002470891 | SCV002768830 | uncertain significance | Polycystic kidney disease 4 | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as 3B-VUS. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 4, with or without hepatic disease (MIM#263200). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from isoleucine to valine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD <0.01 (v3) for a recessive condition (52 heterozygotes, 0 homozygotes). (SP) 0503 - Missense variant consistently predicted to be tolerated by multiple in silico tools or not conserved in placental mammals with a minor amino acid change. (SB) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0808 - Previous reports of pathogenicity for this variant are conflicting (ClinVar). It has also been reported in one family and regarded as pathogenic, however the supporting evidence is insufficient (MyGene2). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Ambry Genetics | RCV002527385 | SCV003631387 | uncertain significance | Inborn genetic diseases | 2021-12-07 | criteria provided, single submitter | clinical testing | The c.9925A>G (p.I3309V) alteration is located in exon 59 (coding exon 58) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 9925, causing the isoleucine (I) at amino acid position 3309 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV000594183 | SCV003842655 | uncertain significance | not provided | 2022-09-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome |
RCV000509311 | SCV000607188 | not provided | Autosomal recessive polycystic kidney disease | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Natera, |
RCV000509311 | SCV001453263 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-04-30 | no assertion criteria provided | clinical testing | |
Laboratory of Gastroenterology and Hepatology, |
RCV001844835 | SCV001876988 | uncertain significance | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research |