Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001328987 | SCV001520260 | uncertain significance | Pontocerebellar hypoplasia type 8 | 2019-01-24 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Invitae | RCV002546294 | SCV003282228 | uncertain significance | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 44 of the CHMP1A protein (p.Cys44Ser). This variant is present in population databases (rs372234497, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CHMP1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028045). 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 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. |
| Ambry Genetics | RCV002546293 | SCV003693693 | uncertain significance | Inborn genetic diseases | 2024-01-09 | criteria provided, single submitter | clinical testing | The c.110T>A (p.V37E) alteration is located in exon 3 (coding exon 3) of the CHMP1A gene. This alteration results from a T to A substitution at nucleotide position 110, causing the valine (V) at amino acid position 37 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |