Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001218970 | SCV001390882 | uncertain significance | Temtamy preaxial brachydactyly syndrome | 2022-05-28 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 534 of the CHSY1 protein (p.Ile534Leu). This variant is present in population databases (rs141305214, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CHSY1-related conditions. ClinVar contains an entry for this variant (Variation ID: 947829). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Fulgent Genetics, |
RCV001218970 | SCV002794404 | uncertain significance | Temtamy preaxial brachydactyly syndrome | 2021-09-08 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002562465 | SCV003687169 | uncertain significance | Inborn genetic diseases | 2021-03-17 | criteria provided, single submitter | clinical testing | The c.1600A>T (p.I534L) alteration is located in exon 3 (coding exon 3) of the CHSY1 gene. This alteration results from a A to T substitution at nucleotide position 1600, causing the isoleucine (I) at amino acid position 534 to be replaced by a leucine (L). The p.I534L alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |