Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000714645 | SCV000845363 | uncertain significance | Schwartz-Jampel syndrome | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000714646 | SCV000845364 | uncertain significance | Stuve-Wiedemann syndrome | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000714647 | SCV000845365 | uncertain significance | Reduced muscle fiber perlecan | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000714645 | SCV001258345 | uncertain significance | Schwartz-Jampel syndrome | 2018-01-12 | 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. |
Illumina Laboratory Services, |
RCV001101714 | SCV001258346 | uncertain significance | Lethal Kniest-like syndrome | 2018-01-12 | 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. |
Labcorp Genetics |
RCV002534526 | SCV003291801 | uncertain significance | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3673 of the HSPG2 protein (p.Phe3673Ser). This variant is present in population databases (rs147707402, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 587472). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV002534526 | SCV003809368 | uncertain significance | not provided | 2019-05-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002534526 | SCV004123424 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | HSPG2: PM2 |