Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001900198 | SCV002117875 | uncertain significance | not provided | 2024-10-08 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3897 of the HSPG2 protein (p.Ala3897Thr). This variant is present in population databases (rs545391821, gnomAD 0.02%). 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: 1362508). 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. |
| Gene |
RCV001900198 | SCV002577314 | uncertain significance | not provided | 2022-03-28 | 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 |
| Ambry Genetics | RCV003289136 | SCV003953595 | uncertain significance | Inborn genetic diseases | 2023-06-02 | criteria provided, single submitter | clinical testing | The c.11689G>A (p.A3897T) alteration is located in exon 85 (coding exon 85) of the HSPG2 gene. This alteration results from a G to A substitution at nucleotide position 11689, causing the alanine (A) at amino acid position 3897 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |