Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CSER _CC_NCGL, |
RCV000029352 | SCV000190070 | uncertain significance | Wilson disease | 2014-06-01 | criteria provided, single submitter | research | Low GERP score may suggest that this variant belongs in a lower pathogenicity class |
EGL Genetic Diagnostics, |
RCV000374856 | SCV000331695 | benign | not specified | 2016-05-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514302 | SCV000564676 | uncertain significance | not provided | 2018-12-20 | criteria provided, single submitter | clinical testing | The V536A variant in the ATP7B gene has been reported previously in association with Wilson disease; however, clinical information was not provided nor was information regarding the presence of a second variant in this individual (Davies et al., 2008). The V536A variant is observed in 296/25,790 (1.1%) alleles from individuals of Finnish background and 939/276,998 (0.39%) total alleles, including two unrelated homozygous individuals, in large population cohorts (Lek et al., 2016). The V536A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret V536A as a variant of uncertain significance. |
Center for Pediatric Genomic Medicine, |
RCV000514302 | SCV000609818 | likely benign | not provided | 2017-09-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000029352 | SCV000626830 | benign | Wilson disease | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000514302 | SCV000694399 | uncertain significance | not provided | 2016-08-11 | criteria provided, single submitter | clinical testing | Variant summary: The ATP7B c.1607T>C (p.Val536Ala) variant involves the alteration of a non-conserved nucleotide. The altered amino acid is located in the heavy metal-associated domain. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 360/120802 control chromosomes, predominantly observed in the European (Finnish) subpopulation at a frequency of 0.0128515 (85/6614) without homozygous occurrences. This frequency is about 2.4 times the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006), suggesting this is possibly a benign polymorphism found primarily in the populations of European (Finnish) origin. This variant has been reported in at least one WD patient without strong evidence for pathogenicity (Davies_2008) and one patient with ADHD; this gene has not been strongnly established as a candidate gene for this phenotype (Lyon_2011). One Medical Center by reseach has classified this variant as VUS. Taken together, this variant is classified as VUS-possibly benign. |
Counsyl | RCV000029352 | SCV000796670 | likely benign | Wilson disease | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514302 | SCV001150662 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000029352 | SCV001268684 | uncertain significance | Wilson disease | 2018-07-10 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Genome |
RCV000029352 | SCV000606967 | not provided | Wilson 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. |