Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768314 | SCV000898974 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | SKI NM_003036.3 exon 5 p.Ala579Thr (c.1735G>A): This variant has not been reported in the literature and is present in 0.01% (3/27314) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-2235992-G-A). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV000768314 | SCV001205754 | likely benign | Shprintzen-Goldberg syndrome | 2023-02-25 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000768314 | SCV001367319 | uncertain significance | Shprintzen-Goldberg syndrome | 2020-01-20 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4. |
Gene |
RCV001563560 | SCV001786530 | uncertain significance | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 626168; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Victorian Clinical Genetics Services, |
RCV000768314 | SCV002768739 | uncertain significance | Shprintzen-Goldberg syndrome | 2020-05-25 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as 3B-VUS. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from an alanine to a threonine (exon 5). (N) 0251 - Variant is heterozygous. (N) 0302 - Variant is present in gnomAD <0.001 for a dominant condition (9 heterozygotes, 0 homozygotes). (P) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (2 heterozygotes, 0 homozygotes). (N) 0502 - Missense variant with conflicting in silico predictions and/or uninformative conservation. (N) 0600 - Variant is located in an annotated domain or motif (coiled-coil region; PDB). (N) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0804 - Variant has previously been described as variant of uncertain significance in multiple independent cases (ClinVar, LOVD). (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
Genome Diagnostics Laboratory, |
RCV001563560 | SCV001932362 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001563560 | SCV001965910 | uncertain significance | not provided | no assertion criteria provided | clinical testing |